Y349C (p.Tyr349Cys) variant of SCN1A (Nav1.1)
Y349C (p.Tyr349Cys) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE; Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
Y349C (p.Tyr349Cys) variant details
- p.Tyr349Cys
- rs794726844
- ClinGen CA303567
- ClinVar RCV000180974
- ClinVar RCV006555531
- Pathogenic
- Early-infantile DEE; Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- AlphaMissense 0.85
- MetaLR 0.96
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.48
- ClinVar: Pathogenic (Early-infantile DEE; Severe myoclonic epilepsy in infancy)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)