Q9R (p.Gln9Arg) variant of ATXN3 (Ataxin-3)
Q9R (p.Gln9Arg) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
Q9R (p.Gln9Arg) variant details
- p.Gln9Arg
- ExAC rs778221475
- gnomAD rs778221475
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 25.30
- PolyPhen-2 0.30
- SIFT 0.02
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)