H38Q (p.His38Gln) variant of ATXN3 (Ataxin-3)
H38Q (p.His38Gln) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
H38Q (p.His38Gln) variant details
- p.His38Gln
- ExAC rs772892274
- gnomAD rs772892274
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 4.68
- PolyPhen-2 0.01
- SIFT 0.56
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available