F99C (p.Phe99Cys) variant of SETX (Helicase senataxin)
F99C (p.Phe99Cys) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
F99C (p.Phe99Cys) variant details
- p.Phe99Cys
- TOPMed rs962992307
- gnomAD rs962992307
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.36
- CADD 22.70
- PolyPhen-2 0.78
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available