V423L (p.Val423Leu) variant of SCN2A (Nav1.2)
V423L (p.Val423Leu) 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; not provided; Seizures, benign f. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
V423L (p.Val423Leu) variant details
- p.Val423Leu
- rs796053180
- ClinGen CA349022248
- ClinVar RCV001384844
- Ensembl rs796053180
- Pathogenic
- Developmental and epileptic encephalopathy, 11; not provided; Seizures, benign f
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- ESM-1b 1.00
- AlphaMissense 0.96
- ClinVar: Pathogenic (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. (PMID 28379373)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)