E35K (p.Glu35Lys) variant of SETX (Helicase senataxin)
E35K (p.Glu35Lys) in SETX (Helicase senataxin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- rs759394055
- NCI-TCGA Cosmic COSV9980
- ExAC rs759394055
- TOPMed rs759394055
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.48
- CADD 24.80
- PolyPhen-2 0.85
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available