R111Q (p.Arg111Gln) variant of SETX (Helicase senataxin)
R111Q (p.Arg111Gln) 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 0.59 / 1. The record also includes population frequency data and structural context.
R111Q (p.Arg111Gln) variant details
- p.Arg111Gln
- NCI-TCGA Cosmic COSV5638
- Ensembl rs1848285282
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.43
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available