Q383E (p.Gln383Glu) variant of SCN2A (Nav1.2)
Q383E (p.Gln383Glu) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
Q383E (p.Gln383Glu) variant details
- p.Gln383Glu
- rs796053178
- ClinGen CA318105
- ClinVar RCV000189204
- ClinVar RCV000549343
- Pathogenic
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- ESM-1b 1.00
- AlphaMissense 0.74
- ClinVar: Pathogenic (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)