P70S (p.Pro70Ser) variant of ATXN2 (Ataxin-2)
P70S (p.Pro70Ser) 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.
P70S (p.Pro70Ser) variant details
- p.Pro70Ser
- gnomAD rs1193252000
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 22.30
- Most common in the African/African-American population (allele frequency 0.00012)