S2R (p.Ser2Arg) variant of SETX (Helicase senataxin)
S2R (p.Ser2Arg) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- ExAC rs756610906
- TOPMed rs756610906
- gnomAD rs756610906
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.46
- CADD 25.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available