R128C (p.Arg128Cys) variant of SETX (Helicase senataxin)
R128C (p.Arg128Cys) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Spinocerebellar ataxia, autosomal recessive, with axonal neuropath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R128C (p.Arg128Cys) variant details
- p.Arg128Cys
- rs552476047
- ClinGen CA5298076
- ClinVar RCV001311800
- ClinVar RCV001871780
- Conflicting interpretations
- not provided; Spinocerebellar ataxia, autosomal recessive, with axonal neuropath
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.55
- CADD 31.00
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Spinocerebellar ataxia, autosomal recessive, with)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)