R931S (p.Arg931Ser) variant of SCN1A (Nav1.1)
R931S (p.Arg931Ser) 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; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R931S (p.Arg931Ser) variant details
- p.Arg931Ser
- rs121918788
- ClinGen CA349061365
- ClinVar RCV001530193
- ClinVar RCV006557504
- Pathogenic/Likely pathogenic
- Severe myoclonic epilepsy in infancy; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (Severe myoclonic epilepsy in infancy; Early-infantile DEE)
- 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)