G139C (p.Gly139Cys) variant of ATXN3 (Ataxin-3)
G139C (p.Gly139Cys) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
G139C (p.Gly139Cys) variant details
- p.Gly139Cys
- ExAC rs766771475
- TOPMed rs766771475
- gnomAD rs766771475
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 24.60
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)