G329A (p.Gly329Ala) variant of SCN1A (Nav1.1)
G329A (p.Gly329Ala) 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; Early-infantile DEE; Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
G329A (p.Gly329Ala) variant details
- p.Gly329Ala
- rs779184118
- ClinGen CA349071694
- ClinVar RCV001334845
- ClinVar RCV004789531
- Pathogenic/Likely pathogenic
- not provided; Early-infantile DEE; Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 0.36
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.43
- ClinVar: Pathogenic/Likely pathogenic (not provided; Early-infantile DEE; Severe myoclonic epilepsy in)
- 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)