K8E (p.Lys8Glu) variant of ATXN3 (Ataxin-3)
K8E (p.Lys8Glu) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
K8E (p.Lys8Glu) variant details
- p.Lys8Glu
- Ensembl rs2068473736
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 25.70
- PolyPhen-2 0.03
- SIFT 0.05
- Population evidence available