C959R (p.Cys959Arg) variant of SCN1A (Nav1.1)
C959R (p.Cys959Arg) 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 Early-infantile DEE; Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
C959R (p.Cys959Arg) variant details
- p.Cys959Arg
- rs121918796
- ClinGen CA285105
- ClinVar RCV000059484
- ClinVar RCV006461388
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Severe myoclonic epilepsy in infancy)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. (PMID 12754708)
- Cited in: Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. (PMID 17054685)