E78D (p.Glu78Asp) variant of SCN1A (Nav1.1)
E78D (p.Glu78Asp) in SCN1A (Nav1.1) is a missense change. The available record places it in the context of in DRVT. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
E78D (p.Glu78Asp) variant details
- p.Glu78Asp
- rs121917933
- ClinGen CA284889
- ClinVar RCV000059388
- UniProt VAR 029660
- not provided
- in DRVT
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 0.67
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: not provided (Severe myoclonic epilepsy in infancy)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. (PMID 12821740)
- Cited in: Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A… (PMID 17054684)