S670Y (p.Ser670Tyr) variant of SCN4A (Nav1.4)
S670Y (p.Ser670Tyr) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Potassium-aggravated myotonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
S670Y (p.Ser670Tyr) variant details
- p.Ser670Tyr
- rs914586984
- ClinGen CA400631582
- ClinVar RCV000754616
- TOPMed rs914586984
- Pathogenic
- Potassium-aggravated myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 0.86
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Potassium-aggravated myotonia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)