G329V (p.Gly329Val) variant of SCN1A (Nav1.1)
G329V (p.Gly329Val) 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; Generalized epilepsy with febrile seizures plus, type 2; Severe my. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
G329V (p.Gly329Val) variant details
- p.Gly329Val
- rs779184118
- ClinGen CA317185
- ClinVar RCV000188856
- ClinVar RCV000677680
- Pathogenic/Likely pathogenic
- not provided; Generalized epilepsy with febrile seizures plus, type 2; Severe my
- 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; Generalized epilepsy with febrile seizures plus, t)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)