A54T (p.Ala54Thr) variant of ATXN2 (Ataxin-2)
A54T (p.Ala54Thr) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- TOPMed rs1202713228
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 22.10
- Population evidence available