C277Y (p.Cys277Tyr) variant of SCN1A (Nav1.1)
C277Y (p.Cys277Tyr) 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 Severe myoclonic epilepsy in infancy; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
C277Y (p.Cys277Tyr) variant details
- p.Cys277Tyr
- rs1574264920
- ClinGen CA349073101
- ClinVar RCV000986911
- ClinVar RCV006464900
- Pathogenic/Likely pathogenic
- Severe myoclonic epilepsy in infancy; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic/Likely pathogenic (Severe myoclonic epilepsy in infancy; Early-infantile DEE)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)