R937C (p.Arg937Cys) variant of SCN2A (Nav1.2)
R937C (p.Arg937Cys) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Developmental and epileptic encephalopathy, 11; Seizures, benign f. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
R937C (p.Arg937Cys) variant details
- p.Arg937Cys
- rs796053197
- ClinGen CA318186
- cosmic curated COSV51844
- ClinVar RCV000189235
- Pathogenic
- not provided; Developmental and epileptic encephalopathy, 11; Seizures, benign f
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (not provided; Developmental and epileptic encephalopathy, 11; Se)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Opposing Effects on Na(V)1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism… (PMID 28256214)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)