P58S (p.Pro58Ser) variant of ATXN2 (Ataxin-2)
P58S (p.Pro58Ser) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
P58S (p.Pro58Ser) variant details
- p.Pro58Ser
- Ensembl rs1592946932
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 14.20
- Population evidence available