P8S (p.Pro8Ser) variant of ATXN2 (Ataxin-2)
P8S (p.Pro8Ser) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
P8S (p.Pro8Ser) variant details
- p.Pro8Ser
- TOPMed rs1885159169
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 10.90
- Most common in the 1KG:MSL population (allele frequency 0.013)