G10D (p.Gly10Asp) variant of SETX (Helicase senataxin)
G10D (p.Gly10Asp) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G10D (p.Gly10Asp) variant details
- p.Gly10Asp
- Ensembl rs1848486034
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.46
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available