P63L (p.Pro63Leu) variant of ATXN2 (Ataxin-2)
P63L (p.Pro63Leu) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
P63L (p.Pro63Leu) variant details
- p.Pro63Leu
- TOPMed rs1417848473
- gnomAD rs1417848473
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 21.30
- Most common in the African/African-American population (allele frequency 0.00031)