R128H (p.Arg128His) variant of SETX (Helicase senataxin)
R128H (p.Arg128His) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R128H (p.Arg128His) variant details
- p.Arg128His
- rs749887957
- ClinGen CA5298075
- NCI-TCGA Cosmic COSV9981
- ClinVar RCV000516255
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.15
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available