S65T (p.Ser65Thr) variant of ATXN2 (Ataxin-2)
S65T (p.Ser65Thr) 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.
S65T (p.Ser65Thr) variant details
- p.Ser65Thr
- Ensembl rs1369238681
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 16.40
- Most common in the African/African-American population (allele frequency 0.00041)