R379C (p.Arg379Cys) variant of SCN2A (Nav1.2)
R379C (p.Arg379Cys) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R379C (p.Arg379Cys) variant details
- p.Arg379Cys
- rs768403673
- ClinGen CA1939761
- NCI-TCGA Cosmic COSV5184
- cosmic curated COSV51840
- Likely pathogenic
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- CADD 32.00
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)