V2013G (p.Val2013Gly) variant of SETX (Helicase senataxin)
V2013G (p.Val2013Gly) 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 record also includes variant effect predictions, published literature, and structural context.
V2013G (p.Val2013Gly) variant details
- p.Val2013Gly
- rs797045068
- ClinGen CA276163
- ClinVar RCV000191127
- Ensembl rs797045068
- Likely pathogenic
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
- Missense
- MutPred 0.55
- ClinVar: Likely pathogenic (Spinocerebellar ataxia, autosomal recessive, with axonal neuropa)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)