G74A (p.Gly74Ala) variant of ATXN1 (Ataxin-1)
G74A (p.Gly74Ala) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G74A (p.Gly74Ala) variant details
- p.Gly74Ala
- gnomAD rs1328240186
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.18
- CADD 19.30
- PolyPhen-2 0.14
- SIFT 0.56
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available