S103I (p.Ser103Ile) variant of SCN1A (P35498)
S103I (p.Ser103Ile) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
S103I (p.Ser103Ile) variant details
- p.Ser103Ile
- rs760361423
- ClinGen CA303246
- ClinVar RCV000180851
- ExAC rs760361423
- Pathogenic
- Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.12
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.52
- ClinVar: Pathogenic (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)