D175H (p.Asp175His) variant of ATXN3 (Ataxin-3)
D175H (p.Asp175His) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
D175H (p.Asp175His) variant details
- p.Asp175His
- TOPMed rs1482408308
- gnomAD rs1482408308
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)