E50G (p.Glu50Gly) variant of ATXN3 (Ataxin-3)
E50G (p.Glu50Gly) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
E50G (p.Glu50Gly) variant details
- p.Glu50Gly
- gnomAD rs1185160488
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 29.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)