R47T (p.Arg47Thr) variant of ATXN3 (Ataxin-3)
R47T (p.Arg47Thr) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R47T (p.Arg47Thr) variant details
- p.Arg47Thr
- gnomAD rs1411034402
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- CADD 22.70
- PolyPhen-2 0.29
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available