CLPSL2

Chr 6

colipase like 2

Also known as: AAAL3045, C6orf126, UNQ3045, dJ510O8.5

NCBI Gene: 389383ENSG00000196748UniProt: Q6UWE3

Predicted to enable enzyme activator activity. Predicted to be involved in digestion and lipid catabolic process. Predicted to act upstream of or within acrosome reaction and homeostasis of number of cells. Predicted to be located in extracellular region. Predicted to be active in acrosomal vesicle and sperm flagellum. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.59
LOEUF
Multiple*
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?
1.59LOEUF
pLI 0.186
Z-score 0.91
OE 0.39 (0.13–1.59)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.42Z-score
OE missense 0.83 (0.65–1.08)
42 obs / 50.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.13–1.59)
0≤0.351.4
Missense OE?0.83 (0.65–1.08)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 1 / 2.6Missense obs/exp: 42 / 50.4Syn Z: -0.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CLPSL2 · 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