D79H (p.Asp79His) variant of SCN1A (P35498)
D79H (p.Asp79His) in SCN1A (P35498) is a missense change. The available record places it in the context of Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
D79H (p.Asp79His) variant details
- p.Asp79His
- rs121917982
- ClinGen CA284892
- ClinVar RCV000059389
- UniProt VAR 064346
- not provided
- Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: not provided (Severe myoclonic epilepsy in infancy)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: The spectrum of SCN1A-related infantile epileptic encephalopathies. (PMID 17347258)
- Cited in: Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. (PMID 18930999)