R1596C (p.Arg1596Cys) variant of SCN1A (Nav1.1)
R1596C (p.Arg1596Cys) 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; Autosomal dominant epilepsy; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R1596C (p.Arg1596Cys) variant details
- p.Arg1596Cys
- rs121917993
- ClinGen CA145250
- cosmic curated COSV57659
- ClinVar RCV000059427
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Autosomal dominant epilepsy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Autosomal dominant epilepsy; Inborn genetic)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: The spectrum of SCN1A-related infantile epileptic encephalopathies. (PMID 17347258)
- Cited in: Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. (PMID 18930999)