M1323V (p.Met1323Val) variant of SCN2A (Nav1.2)
M1323V (p.Met1323Val) 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; Malignant migrating partial seizures of infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
M1323V (p.Met1323Val) variant details
- p.Met1323Val
- rs1057519523
- ClinGen CA16044308
- ClinVar RCV000416998
- ClinVar RCV005411424
- Pathogenic
- not provided; Malignant migrating partial seizures of infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Malignant migrating partial seizures of infancy)
- EBI: Pathogenic (in DEE11)
- UniProt: Pathogenic (in DEE11)
- Structural context available
- Cited in: Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. (PMID 23935176)
- Cited in: Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. (PMID 19783390)