AGAP5

Chr 10

ArfGAP with GTPase domain, ankyrin repeat and PH domain 5

Also known as: CTGLF2

NCBI Gene: 729092ENSG00000172650UniProt: A6NIR3OMIM: 621156

Predicted to enable GTPase activator activity and GTPase activity. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.44
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.44LOEUF
pLI 0.006
Z-score 0.84
OE 0.64 (0.31–1.44)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.54Z-score
OE missense 0.89 (0.79–1.01)
185 obs / 207.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.31–1.44)
0≤0.351.4
Missense OE?0.89 (0.79–1.01)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 4 / 6.3Missense obs/exp: 185 / 207.0Syn Z: -0.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AGAP5 · 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