R946C (p.Arg946Cys) variant of SCN1A (Nav1.1)
R946C (p.Arg946Cys) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE; not provided; Generalized epilepsy with febrile seizures pl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
R946C (p.Arg946Cys) variant details
- p.Arg946Cys
- rs121918775
- ClinGen CA269785
- cosmic curated COSV57677
- ClinVar RCV000059481
- Pathogenic
- Early-infantile DEE; not provided; Generalized epilepsy with febrile seizures pl
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (Early-infantile DEE; not provided; Generalized epilepsy with feb)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy… (PMID 14738421)
- Cited in: Genotype-phenotype associations in SCN1A-related epilepsies. (PMID 21248271)