CYP2W1

Chr 7

cytochrome P450 family 2 subfamily W member 1

NCBI Gene: 54905ENSG00000073067UniProt: Q8TAV3

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008]

186
ClinVar variants
39
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— CYP2W1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
39 Pathogenic / Likely Pathogenic· 132 VUS of 186 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.10LOEUF
pLI 0.000
Z-score 1.24
OE 0.69 (0.45–1.10)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.17Z-score
OE missense 0.97 (0.89–1.07)
306 obs / 314.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.69 (0.45–1.10)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.97 (0.89–1.07)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.13
0≤1.21.6
LoF obs/exp: 13 / 18.8Missense obs/exp: 306 / 314.6Syn Z: -1.31

ClinVar Variant Classifications

186 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic38
Likely Pathogenic1
VUS132
Likely Benign10
Benign5
38
Pathogenic
1
Likely Pathogenic
132
VUS
10
Likely Benign
5
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
38
0
38
Likely Pathogenic
0
0
1
0
1
VUS
0
117
15
0
132
Likely Benign
0
7
1
2
10
Benign
0
1
2
2
5
Total0125574186

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CYP2W1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
CYP2W1 polymorphism: functional aspects and relation to risk for colorectal cancer.
Stenstedt K et al.·Pharmacogenomics
2013Functional
CYP2W1, CYP4F11 and CYP8A1 polymorphisms and interaction of CYP2W1 genotypes with risk factors in Mexican women with breast cancer.
Cárdenas-Rodríguez N et al.·Asian Pac J Cancer Prev
2012
Amplification of the PLAG-family genes-PLAGL1 and PLAGL2-is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification.
Keck MK et al.·Acta Neuropathol
2023
PLAG1 fusions define a third subtype of CNS embryonal tumor with PLAG family gene alteration.
Keck MK et al.·Acta Neuropathol
2025
Genetic polymorphisms and haplotype structures of the human CYP2W1 gene in a Japanese population.
Hanzawa Y et al.·Drug Metab Dispos
2008
CYP2W1 variant alleles in Caucasians and association of the CYP2W1 G541A (Ala181Thr) polymorphism with increased colorectal cancer risk.
Gervasini G et al.·Pharmacogenomics
2010
Cytochrome P450 2W1 (CYP2W1) - ready for use as the biomarker and drug target for cancer?
Pan Y et al.·Xenobiotica
2017
Aberrant Expression of CYP2W1 in Pediatric Soft Tissue Sarcomas: Clinical Significance and Potential as a Therapeutic Target.
Molina-Ortiz D et al.·Curr Oncol
2025
CYP2W1 is highly expressed in adrenal glands and is positively associated with the response to mitotane in adrenocortical carcinoma.
Ronchi CL et al.·PLoS One
2014Clinical trial
The expression of the novel CYP2W1 enzyme is an independent prognostic factor in colorectal cancer - a pilot study.
Edler D et al.·Eur J Cancer
2009
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools