R2232C (p.Arg2232Cys) variant of SETX (Helicase senataxin)
R2232C (p.Arg2232Cys) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R2232C (p.Arg2232Cys) variant details
- p.Arg2232Cys
- rs759299299
- ClinGen CA5296635
- ClinVar RCV002052234
- ExAC rs759299299
- Likely pathogenic
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.96
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Spinocerebellar ataxia, autosomal recessive, with axonal neuropa)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)