R332W (p.Arg332Trp) variant of SETX (Helicase senataxin)
R332W (p.Arg332Trp) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R332W (p.Arg332Trp) variant details
- p.Arg332Trp
- rs29001665
- ClinGen CA252181
- ClinVar RCV000002378
- ClinVar RCV000269785
- Pathogenic/Likely pathogenic
- not provided; Spinocerebellar ataxia, autosomal recessive, with axonal neuropath
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.45
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Spinocerebellar ataxia, autosomal recessive, with)
- EBI: Pathogenic (in SCAN2)
- UniProt: Pathogenic (in SCAN2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. (PMID 14770181)
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)