E74G (p.Glu74Gly) variant of SETX (Helicase senataxin)
E74G (p.Glu74Gly) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E74G (p.Glu74Gly) variant details
- p.Glu74Gly
- gnomAD rs1378361041
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.48
- CADD 26.30
- PolyPhen-2 0.76
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available