C5S (p.Cys5Ser) variant of SETX (Helicase senataxin)
C5S (p.Cys5Ser) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
C5S (p.Cys5Ser) variant details
- p.Cys5Ser
- rs1589791895
- ClinGen CA375352133
- ClinVar RCV000813622
- TOPMed rs1589791895
- Uncertain significance
- Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.34
- CADD 22.90
- PolyPhen-2 0.53
- SIFT 0.16
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, au)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)