C345R (p.Cys345Arg) variant of SCN1A (Nav1.1)
C345R (p.Cys345Arg) 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; Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
C345R (p.Cys345Arg) variant details
- p.Cys345Arg
- rs794726782
- ClinGen CA303376
- ClinVar RCV000180898
- ClinVar RCV006461719
- Pathogenic
- Early-infantile DEE; Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Early-infantile DEE; Severe myoclonic epilepsy in infancy)
- 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: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (PMID 11359211)