V424M (p.Val424Met) variant of SCN2A (Nav1.2)
V424M (p.Val424Met) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.97 / 1. The record also includes published literature and structural context.
V424M (p.Val424Met) variant details
- p.Val424Met
- rs1574567728
- ClinGen CA349022253
- cosmic curated COSV10462
- ClinVar RCV000818571
- Pathogenic
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- ESM-1b 1.00
- AlphaMissense 0.94
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like… (PMID 28709814)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)