E116K (p.Glu116Lys) variant of SETX (Helicase senataxin)
E116K (p.Glu116Lys) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
E116K (p.Glu116Lys) variant details
- p.Glu116Lys
- ExAC rs768443727
- gnomAD rs768443727
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.67
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available