A12P (p.Ala12Pro) variant of ATXN2 (Ataxin-2)
A12P (p.Ala12Pro) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
A12P (p.Ala12Pro) variant details
- p.Ala12Pro
- TOPMed rs1240873229
- gnomAD rs1240873229
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 14.00
- Most common in the African/African-American population (allele frequency 0.00041)