A73S (p.Ala73Ser) variant of ATXN2 (Ataxin-2)
A73S (p.Ala73Ser) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A73S (p.Ala73Ser) variant details
- p.Ala73Ser
- gnomAD rs1380791606
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 14.30
- PolyPhen-2 0.22
- SIFT 0.37
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available