C133R (p.Cys133Arg) variant of SETX (Helicase senataxin)
C133R (p.Cys133Arg) in SETX (Helicase senataxin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
C133R (p.Cys133Arg) variant details
- p.Cys133Arg
- ExAC rs766625711
- gnomAD rs766625711
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.79
- CADD 27.40
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available