CAB39L

Chr 13

calcium binding protein 39 like

Also known as: MLAA-34, MO25-BETA, MO2L, bA103J18.3

NCBI Gene: 81617ENSG00000102547UniProt: Q9H9S4

Predicted to enable protein serine/threonine kinase activator activity. Predicted to be involved in intracellular signal transduction. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.00
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?
1.00LOEUF
pLI 0.000
Z-score 1.56
OE 0.57 (0.34–1.00)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.64Z-score
OE missense 0.86 (0.76–0.99)
150 obs / 173.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.57 (0.34–1.00)
0≤0.351.4
Missense OE?0.86 (0.76–0.99)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 9 / 15.7Missense obs/exp: 150 / 173.6Syn Z: 0.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CAB39L · 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