E44K (p.Glu44Lys) variant of ATXN3 (Ataxin-3)
E44K (p.Glu44Lys) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- ExAC rs761867251
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available