H38Q (p.His38Gln) variant of ATXN1 (Ataxin-1)
H38Q (p.His38Gln) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
H38Q (p.His38Gln) variant details
- p.His38Gln
- Ensembl rs2113415069
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.10
- CADD 18.70
- PolyPhen-2 0.02
- SIFT 0.46
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available