A63S (p.Ala63Ser) variant of ATXN1 (Ataxin-1)
A63S (p.Ala63Ser) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A63S (p.Ala63Ser) variant details
- p.Ala63Ser
- gnomAD rs1195602589
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.03
- AlphaMissense 0.08
- MetaLR 0.09
- MetaSVM -0.96
- CADD 8.68
- PolyPhen-2 0.13
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available