P57R (p.Pro57Arg) variant of ATXN2 (Ataxin-2)
P57R (p.Pro57Arg) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
P57R (p.Pro57Arg) variant details
- p.Pro57Arg
- TOPMed rs1390837161
- gnomAD rs1390837161
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 23.50
- Most common in the African/African-American population (allele frequency 0.00012)