C133G (p.Cys133Gly) variant of SETX (Helicase senataxin)
C133G (p.Cys133Gly) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
C133G (p.Cys133Gly) variant details
- p.Cys133Gly
- rs766625711
- ClinGen CA375350484
- ClinVar RCV001167589
- ClinVar RCV001167590
- Uncertain significance
- Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.70
- CADD 29.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, au)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)