G1433E (p.Gly1433Glu) variant of SCN1A (Nav1.1)
G1433E (p.Gly1433Glu) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Early-infantile DEE; not provided; Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G1433E (p.Gly1433Glu) variant details
- p.Gly1433Glu
- rs121918741
- ClinGen CA285162
- cosmic curated COSV10514
- ClinVar RCV000059509
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided; Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided; Severe myoclonic epilepsy in)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. (PMID 20431604)
- Cited in: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (PMID 11359211)