E118K (p.Glu118Lys) variant of ATXN3 (Ataxin-3)
E118K (p.Glu118Lys) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
E118K (p.Glu118Lys) variant details
- p.Glu118Lys
- gnomAD rs1422919284
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 23.60
- PolyPhen-2 0.13
- SIFT 0.06
- Most common in the 1KG:MSL population (allele frequency 0.013)