ACAP3

Chr 1

ArfGAP with coiled-coil, ankyrin repeat and PH domains 3

Also known as: CENTB5

NCBI Gene: 116983ENSG00000131584UniProt: Q96P50

Predicted to enable GTPase activator activity and zinc ion binding activity. Predicted to act upstream of or within neuron migration and regulation of neuron projection development. Predicted to be located in endosome membrane and growth cone. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.59
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
Moderate LoF intolerance
LoF Constraint?
0.59LOEUF
pLI 0.000
Z-score 3.73
OE 0.39 (0.27–0.59)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.67Z-score
OE missense 0.79 (0.73–0.86)
410 obs / 516.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.27–0.59)
0≤0.351.4
Missense OE?0.79 (0.73–0.86)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 17 / 43.5Missense obs/exp: 410 / 516.9Syn Z: -1.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ACAP3 · 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