G43V (p.Gly43Val) variant of ATXN2 (Ataxin-2)
G43V (p.Gly43Val) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
G43V (p.Gly43Val) variant details
- p.Gly43Val
- TOPMed rs1885149944
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available