P71S (p.Pro71Ser) variant of ATXN2 (Ataxin-2)
P71S (p.Pro71Ser) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
P71S (p.Pro71Ser) variant details
- p.Pro71Ser
- Ensembl rs1885140308
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 23.10
- Most common in the REMAINING population (allele frequency 0.00048)