Y426C (p.Tyr426Cys) variant of SCN1A (Nav1.1)
Y426C (p.Tyr426Cys) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Early-infantile DEE; not provided; Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
Y426C (p.Tyr426Cys) variant details
- p.Tyr426Cys
- rs796052973
- ClinGen CA317209
- ClinVar RCV000188864
- ClinVar RCV001528187
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided; Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 0.94
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided; Severe myoclonic epilepsy in)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. (PMID 18930999)
- Cited in: Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. (PMID 23195492)