G57S (p.Gly57Ser) variant of ATXN1 (Ataxin-1)
G57S (p.Gly57Ser) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
G57S (p.Gly57Ser) variant details
- p.Gly57Ser
- gnomAD rs1167109152
- Missense
- Variant Prioritization Score for Impact Estimate 0.0848
- CADD 0.59
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available