Q63R (p.Gln63Arg) variant of ATXN3 (Ataxin-3)
Q63R (p.Gln63Arg) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
Q63R (p.Gln63Arg) variant details
- p.Gln63Arg
- ESP rs377603133
- TOPMed rs377603133
- gnomAD rs377603133
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 25.20
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)