R68C (p.Arg68Cys) variant of SETX (Helicase senataxin)
R68C (p.Arg68Cys) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotroph. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R68C (p.Arg68Cys) variant details
- p.Arg68Cys
- rs771481623
- ClinGen CA5298102
- ClinVar RCV001799572
- ClinVar RCV003772202
- Conflicting interpretations
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotroph
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.69
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Spinocerebellar ataxia, autosomal recessive, with axonal neuropa)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)