A80P (p.Ala80Pro) variant of ATXN1 (Ataxin-1)
A80P (p.Ala80Pro) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A80P (p.Ala80Pro) variant details
- p.Ala80Pro
- Ensembl rs1760889058
- Missense
- Variant Prioritization Score for Impact Estimate 0.0902
- CADD 1.45
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available