A73V (p.Ala73Val) variant of ATXN2 (Ataxin-2)
A73V (p.Ala73Val) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A73V (p.Ala73Val) variant details
- p.Ala73Val
- 1000Genomes rs2135864780
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 18.20
- PolyPhen-2 0.40
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available