E53G (p.Glu53Gly) variant of SETX (Helicase senataxin)
E53G (p.Glu53Gly) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E53G (p.Glu53Gly) variant details
- p.Glu53Gly
- ExAC rs769847544
- gnomAD rs769847544
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.24
- CADD 22.90
- PolyPhen-2 0.27
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available