H6Y (p.His6Tyr) variant of ATXN3 (Ataxin-3)
H6Y (p.His6Tyr) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
H6Y (p.His6Tyr) variant details
- p.His6Tyr
- gnomAD rs1273833666
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- CADD 25.00
- PolyPhen-2 0.22
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)