H119Y (p.His119Tyr) variant of ATXN3 (Ataxin-3)
H119Y (p.His119Tyr) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
H119Y (p.His119Tyr) variant details
- p.His119Tyr
- gnomAD rs1362569140
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available