S13F (p.Ser13Phe) variant of SETX (Helicase senataxin)
S13F (p.Ser13Phe) 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 0.49 / 1. The record also includes population frequency data and structural context.
S13F (p.Ser13Phe) variant details
- p.Ser13Phe
- ExAC rs762432813
- TOPMed rs762432813
- gnomAD rs762432813
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.41
- CADD 24.20
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available