OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
0.86
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.000
Z-score 2.25
OE 0.60 (0.430.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.68Z-score
OE missense 0.91 (0.830.99)
384 obs / 423.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.60 (0.430.86)
00.351.4
Missense OE?0.91 (0.830.99)
00.61.4
Synonymous OE?0.81
01.21.6
LoF obs/exp: 22 / 36.7Missense obs/exp: 384 / 423.6Syn Z: 1.88

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ANKRD18A · 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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