R393C (p.Arg393Cys) variant of SCN1A (Nav1.1)
R393C (p.Arg393Cys) 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 SCN1A-related disorder; Migraine, familial hemiplegic, 3; Severe myoclonic epile. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R393C (p.Arg393Cys) variant details
- p.Arg393Cys
- rs121917929
- ClinGen CA284868
- cosmic curated COSV10514
- ClinVar RCV000059377
- Pathogenic/Likely pathogenic
- SCN1A-related disorder; Migraine, familial hemiplegic, 3; Severe myoclonic epile
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (SCN1A-related disorder; Migraine, familial hemiplegic, 3; Severe)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Population evidence available
- Structural context available
- Cited in: Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A… (PMID 17054684)
- Cited in: The spectrum of SCN1A-related infantile epileptic encephalopathies. (PMID 17347258)