G88V (p.Gly88Val) variant of ATXN3 (Ataxin-3)
G88V (p.Gly88Val) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
G88V (p.Gly88Val) variant details
- p.Gly88Val
- TOPMed rs2064463208
- gnomAD rs2064463208
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 25.90
- Most common in the East Asian population (allele frequency 0.00015)