COMTD1

Chr 10

catechol-O-methyltransferase domain containing 1

ENSG00000165644UniProt: Q86VU5OMIM: 621350

Putative O-methyltransferase

OMIMResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.35
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.35LOEUF
pLI 0.000
Z-score 0.75
OE 0.75 (0.44–1.35)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.92Z-score
OE missense 0.76 (0.64–0.91)
87 obs / 114.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.75 (0.44–1.35)
0≤0.351.4
Missense OE?0.76 (0.64–0.91)
0≤0.61.4
Synonymous OE?0.73
0≤1.21.6
LoF obs/exp: 8 / 10.6Missense obs/exp: 87 / 114.8Syn Z: 1.55

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

COMTD1 · protein map & ClinVar variants

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

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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients