F56S (p.Phe56Ser) variant of SETX (Helicase senataxin)
F56S (p.Phe56Ser) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
F56S (p.Phe56Ser) variant details
- p.Phe56Ser
- rs1032816797
- ClinGen CA200838130
- ClinVar RCV001056142
- TOPMed rs1032816797
- Uncertain significance
- Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.14
- CADD 9.15
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, au)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)