G10R (p.Gly10Arg) variant of SETX (Helicase senataxin)
G10R (p.Gly10Arg) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- ExAC rs751146499
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.44
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available