H939Y (p.His939Tyr) variant of SCN1A (Nav1.1)
H939Y (p.His939Tyr) 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 not provided; Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
H939Y (p.His939Tyr) variant details
- p.His939Tyr
- rs121918736
- ClinGen CA285087
- ClinVar RCV000059477
- ClinVar RCV001548630
- Pathogenic/Likely pathogenic
- not provided; Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (not provided; Severe myoclonic epilepsy in infancy)
- 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)