G83D (p.Gly83Asp) variant of ATXN2 (Ataxin-2)
G83D (p.Gly83Asp) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
G83D (p.Gly83Asp) variant details
- p.Gly83Asp
- ExAC rs777393909
- TOPMed rs777393909
- gnomAD rs777393909
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 23.30
- PolyPhen-2 0.51
- SIFT 0.01
- Population evidence available