R68H (p.Arg68His) variant of SETX (Helicase senataxin)
R68H (p.Arg68His) 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 0.69 / 1. The record also includes population frequency data and structural context.
R68H (p.Arg68His) variant details
- p.Arg68His
- NCI-TCGA TCGA novel
- TOPMed rs1777745223
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.62
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available