ANKS3

Chr 16

ankyrin repeat and sterile alpha motif domain containing 3

Predicted to be located in cytoplasm. Predicted to be active in cilium. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
0.73
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.73LOEUF
pLI 0.000
Z-score 2.83
OE 0.48 (0.330.73)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-1.76Z-score
OE missense 1.25 (1.161.34)
497 obs / 398.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.48 (0.330.73)
00.351.4
Missense OE?1.25 (1.161.34)
00.61.4
Synonymous OE?1.38
01.21.6
LoF obs/exp: 17 / 35.1Missense obs/exp: 497 / 398.3Syn Z: -3.89

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ANKS3 · 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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