R931C (p.Arg931Cys) variant of SCN1A (Nav1.1)
R931C (p.Arg931Cys) 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; not provided; Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R931C (p.Arg931Cys) variant details
- p.Arg931Cys
- rs121918788
- ClinGen CA273369
- NCI-TCGA Cosmic COSV5768
- cosmic curated COSV57687
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided; Severe myoclonic epilepsy in infancy
- 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 (Early-infantile DEE; not provided; Severe myoclonic epilepsy in)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. (PMID 12083760)
- Cited in: Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. (PMID 18930999)