R139W (p.Arg139Trp) variant of SETX (Helicase senataxin)
R139W (p.Arg139Trp) 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 population frequency data and structural context.
R139W (p.Arg139Trp) variant details
- p.Arg139Trp
- rs960076085
- NCI-TCGA Cosmic COSV5638
- TOPMed rs960076085
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.48
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available