A73T (p.Ala73Thr) variant of ATXN2 (Ataxin-2)
A73T (p.Ala73Thr) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A73T (p.Ala73Thr) variant details
- p.Ala73Thr
- gnomAD rs1380791606
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 15.80
- PolyPhen-2 0.30
- SIFT 0.12
- Population evidence available
- Structural context available