A86T (p.Ala86Thr) variant of ATXN2 (Ataxin-2)
A86T (p.Ala86Thr) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
A86T (p.Ala86Thr) variant details
- p.Ala86Thr
- Ensembl rs866750676
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 18.20
- Most common in the 1KG:CLM population (allele frequency 0.0053)