S1159P (p.Ser1159Pro) variant of SCN4A (Nav1.4)
S1159P (p.Ser1159Pro) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Potassium-aggravated myotonia. The record also includes published literature and structural context.
S1159P (p.Ser1159Pro) variant details
- p.Ser1159Pro
- rs2509291006
- ClinGen CA400618687
- ClinVar RCV003224970
- Likely pathogenic
- Potassium-aggravated myotonia
- Missense
- ClinVar: Likely pathogenic (Potassium-aggravated myotonia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)