G329C (p.Gly329Cys) variant of SCN1A (Nav1.1)
G329C (p.Gly329Cys) 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; Developmental and epileptic encephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
G329C (p.Gly329Cys) variant details
- p.Gly329Cys
- rs781746113
- ClinGen CA317771
- ClinVar RCV000189077
- ClinVar RCV001253376
- Pathogenic/Likely pathogenic
- Severe myoclonic epilepsy in infancy; Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- AlphaMissense 0.18
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.36
- ClinVar: Pathogenic/Likely pathogenic (Severe myoclonic epilepsy in infancy; Developmental and epilepti)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)