C114Y (p.Cys114Tyr) variant of ATXN3 (Ataxin-3)
C114Y (p.Cys114Tyr) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
C114Y (p.Cys114Tyr) variant details
- p.Cys114Tyr
- Ensembl rs866585670
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- CADD 26.80
- PolyPhen-2 0.54
- SIFT 0.02
- Population evidence available