E131K (p.Glu131Lys) variant of SETX (Helicase senataxin)
E131K (p.Glu131Lys) 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 0.56 / 1. The record also includes structural context.
E131K (p.Glu131Lys) variant details
- p.Glu131Lys
- rs758244236
- NCI-TCGA Cosmic COSV5638
- ExAC rs758244236
- TOPMed rs758244236
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- AlphaMissense 0.24
- MetaLR 0.49
- MetaSVM 0.18
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.72
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available