V1627M (p.Val1627Met) variant of SCN2A (Nav1.2)
V1627M (p.Val1627Met) 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 0.90 / 1. The record also includes published literature and structural context.
V1627M (p.Val1627Met) variant details
- p.Val1627Met
- rs796053156
- ClinGen CA318015
- ClinVar RCV000189170
- ClinVar RCV000640616
- Pathogenic
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)