P57S (p.Pro57Ser) variant of ATXN2 (Ataxin-2)
P57S (p.Pro57Ser) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
P57S (p.Pro57Ser) variant details
- p.Pro57Ser
- gnomAD rs959703234
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 22.50
- Most common in the African/African-American population (allele frequency 0.00031)