E46D (p.Glu46Asp) variant of SETX (Helicase senataxin)
E46D (p.Glu46Asp) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E46D (p.Glu46Asp) variant details
- p.Glu46Asp
- Ensembl rs1564165848
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.48
- CADD 10.70
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available