A21T (p.Ala21Thr) variant of ATXN2 (Ataxin-2)
A21T (p.Ala21Thr) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- gnomAD rs1226430967
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 15.90
- Most common in the African/African-American population (allele frequency 2.4e-05)