R859H (p.Arg859His) variant of SCN1A (Nav1.1)
R859H (p.Arg859His) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE; Autosomal dominant epilepsy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R859H (p.Arg859His) variant details
- p.Arg859His
- rs398123588
- ClinGen CA266833
- ClinVar RCV000255810
- ClinVar RCV000781835
- Pathogenic
- Early-infantile DEE; Autosomal dominant epilepsy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- CADD 28.40
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic (Early-infantile DEE; Autosomal dominant epilepsy; not provided)
- EBI: Pathogenic (in GEFSP2)
- UniProt: Pathogenic (in GEFSP2)
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. (PMID 21864321)
- Cited in: Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. (PMID 10742094)