A240S (p.Ala240Ser) variant of SCN2A (Nav1.2)
A240S (p.Ala240Ser) 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 published literature and structural context.
A240S (p.Ala240Ser) variant details
- p.Ala240Ser
- rs1064795014
- ClinGen CA349017808
- ClinVar RCV001755556
- ClinVar RCV002471151
- Pathogenic
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- ESM-1b 1.00
- AlphaMissense 0.57
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Pathogenic (in BFIS3)
- UniProt: Pathogenic (in BFIS3)
- Structural context available
- Cited in: SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. (PMID 26291284)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)