M1490V (p.Met1490Val) variant of SCN2A (Nav1.2)
M1490V (p.Met1490Val) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
M1490V (p.Met1490Val) variant details
- p.Met1490Val
- rs869312663
- ClinGen CA354193
- ClinVar RCV000209898
- ClinVar RCV000640635
- Pathogenic
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.94
- MetaSVM 1.09
- CADD 25.10
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)