R17H (p.Arg17His) variant of ATXN1 (Ataxin-1)
R17H (p.Arg17His) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R17H (p.Arg17His) variant details
- p.Arg17His
- TOPMed rs1250580364
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.37
- AlphaMissense 0.18
- MetaLR 0.12
- MetaSVM -1.02
- CADD 27.20
- PolyPhen-2 0.97
- Population evidence available
- Structural context available