D57G (p.Asp57Gly) variant of ATXN3 (Ataxin-3)
D57G (p.Asp57Gly) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
D57G (p.Asp57Gly) variant details
- p.Asp57Gly
- gnomAD rs1017355864
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 22.30
- PolyPhen-2 0.11
- SIFT 0.08
- Population evidence available