CLPSL1

Chr 6

colipase like 1

Also known as: C6orf127, ESP32, dJ510O8.6

NCBI Gene: 340204ENSG00000204140UniProt: A2RUU4

Predicted to enable enzyme activator activity. Predicted to be involved in digestion and lipid catabolic process. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.93
LOEUF
DN
Mechanism· predicted
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?
1.93LOEUF
pLI 0.000
Z-score -0.88
OE 1.47 (0.74–1.93)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.19Z-score
OE missense 1.06 (0.88–1.30)
70 obs / 65.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.47 (0.74–1.93)
0≤0.351.4
Missense OE?1.06 (0.88–1.30)
0≤0.61.4
Synonymous OE?0.66
0≤1.21.6
LoF obs/exp: 6 / 4.1Missense obs/exp: 70 / 65.8Syn Z: 1.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CLPSL1 · 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