G74V (p.Gly74Val) variant of ATXN1 (Ataxin-1)
G74V (p.Gly74Val) 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.
G74V (p.Gly74Val) variant details
- p.Gly74Val
- gnomAD rs1328240186
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.24
- CADD 23.50
- PolyPhen-2 0.55
- SIFT 0.08
- Population evidence available
- Structural context available