D145G (p.Asp145Gly) variant of ATXN3 (Ataxin-3)
D145G (p.Asp145Gly) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
D145G (p.Asp145Gly) variant details
- p.Asp145Gly
- TOPMed rs2063132649
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 26.80
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)