E10K (p.Glu10Lys) variant of ATXN1 (Ataxin-1)
E10K (p.Glu10Lys) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- cosmic curated COSV55231
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.32
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.06
- Population evidence available
- Structural context available