A342S (p.Ala342Ser) variant of SCN1A (Nav1.1)
A342S (p.Ala342Ser) 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; Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
A342S (p.Ala342Ser) variant details
- p.Ala342Ser
- rs794726843
- ClinGen CA303563
- ClinVar RCV000180973
- ClinVar RCV003228910
- Pathogenic/Likely pathogenic
- not provided; Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.14
- MetaLR 0.90
- MetaSVM 0.94
- PolyPhen-2 0.99
- SIFT 0.17
- EVE 0.25
- ClinVar: Pathogenic/Likely pathogenic (not provided; Severe myoclonic epilepsy in infancy)
- 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)