P358S (p.Pro358Ser) variant of SCN1A (Nav1.1)
P358S (p.Pro358Ser) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 6A; Severe myoclonic epilepsy in inf. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
P358S (p.Pro358Ser) variant details
- p.Pro358Ser
- rs121917923
- ClinGen CA303166
- cosmic curated COSV10459
- ClinVar RCV000180825
- Pathogenic
- Developmental and epileptic encephalopathy, 6A; Severe myoclonic epilepsy in inf
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 6A; Severe myoclonic)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- 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)