AGAP6

Chr 10

ArfGAP with GTPase domain, ankyrin repeat and PH domain 6

Putative GTPase-activating protein

OMIMResearchGenerating clinical summary…
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
1.56
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.56LOEUF
pLI 0.000
Z-score 0.27
OE 0.91 (0.551.56)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.09Z-score
OE missense 1.17 (1.071.27)
382 obs / 326.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.91 (0.551.56)
00.351.4
Missense OE?1.17 (1.071.27)
00.61.4
Synonymous OE?1.10
01.21.6
LoF obs/exp: 9 / 9.9Missense obs/exp: 382 / 326.5Syn Z: -0.88

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

AGAP6 · 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

No active trials found for this gene.

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