H17R (p.His17Arg) variant of ATXN3 (Ataxin-3)
H17R (p.His17Arg) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
H17R (p.His17Arg) variant details
- p.His17Arg
- TOPMed rs1227511159
- gnomAD rs1227511159
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)