R118S (p.Arg118Ser) variant of SCN1A (Nav1.1)
R118S (p.Arg118Ser) 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 Severe myoclonic epilepsy in infancy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R118S (p.Arg118Ser) variant details
- p.Arg118Ser
- rs121917959
- ClinGen CA10602815
- ClinVar RCV000364532
- ClinVar RCV000986918
- Pathogenic/Likely pathogenic
- Severe myoclonic epilepsy in infancy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic/Likely pathogenic (Severe myoclonic epilepsy in infancy; not provided)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. (PMID 18413471)
- Cited in: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (PMID 11359211)