E430G (p.Glu430Gly) variant of SCN2A (Nav1.2)
E430G (p.Glu430Gly) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.95 / 1. The record also includes published literature and structural context.
E430G (p.Glu430Gly) variant details
- p.Glu430Gly
- rs796053183
- ClinGen CA318120
- ClinVar RCV000189210
- ClinVar RCV001379442
- Pathogenic/Likely pathogenic
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- ESM-1b 1.00
- AlphaMissense 0.89
- ClinVar: Pathogenic/Likely pathogenic (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Pathogenic (in DEE11)
- UniProt: Pathogenic (in DEE11)
- Structural context available
- Cited in: Confirming an expanded spectrum of SCN2A mutations: a case series. (PMID 24659627)
- Cited in: Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. (PMID 19783390)