S103G (p.Ser103Gly) variant of SCN1A (P35498)
S103G (p.Ser103Gly) in SCN1A (P35498) is a missense change. The available record places it in the context of Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
S103G (p.Ser103Gly) variant details
- p.Ser103Gly
- rs121918743
- ClinGen CA285123
- ClinVar RCV000059491
- UniProt VAR 029662
- not provided
- Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- AlphaMissense 0.52
- MetaLR 0.95
- MetaSVM 1.11
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.61
- ClinVar: not provided (Severe myoclonic epilepsy in infancy)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized… (PMID 12566275)
- Cited in: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (PMID 11359211)