P8L (p.Pro8Leu) variant of ATXN2 (Ataxin-2)
P8L (p.Pro8Leu) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- TOPMed rs1885159064
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 13.50
- Most common in the African/African-American population (allele frequency 0.00041)