Q176R (p.Gln176Arg) variant of ATXN3 (Ataxin-3)
Q176R (p.Gln176Arg) 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.
Q176R (p.Gln176Arg) variant details
- p.Gln176Arg
- TOPMed rs2061779224
- gnomAD rs2061779224
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 23.90
- PolyPhen-2 0.50
- SIFT 0.06
- Most common in the 1KG:MSL population (allele frequency 0.013)