S146F (p.Ser146Phe) variant of SETX (Helicase senataxin)
S146F (p.Ser146Phe) in SETX (Helicase senataxin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
S146F (p.Ser146Phe) variant details
- p.Ser146Phe
- rs1286335620
- TOPMed rs1286335620
- gnomAD rs1286335620
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.50
- CADD 28.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available