P62L (p.Pro62Leu) variant of ATXN2 (Ataxin-2)
P62L (p.Pro62Leu) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
P62L (p.Pro62Leu) variant details
- p.Pro62Leu
- TOPMed rs1885143409
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 23.50
- Most common in the Middle Eastern population (allele frequency 0.0007)