D145H (p.Asp145His) variant of ATXN3 (Ataxin-3)
D145H (p.Asp145His) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
D145H (p.Asp145His) variant details
- p.Asp145His
- TOPMed rs1050273251
- gnomAD rs1050273251
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 24.10
- Most common in the 1KG:MXL population (allele frequency 0.0081)