R1648H (p.Arg1648His) variant of SCN1A (Nav1.1)
R1648H (p.Arg1648His) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant epilepsy; Early-infantile DEE; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
R1648H (p.Arg1648His) variant details
- p.Arg1648His
- rs121918622
- ClinGen CA256584
- ClinVar RCV000013742
- ClinVar RCV000059521
- Pathogenic
- Autosomal dominant epilepsy; Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (Autosomal dominant epilepsy; Early-infantile DEE; not provided)
- EBI: Pathogenic (in GEFSP2 and DRVT)
- UniProt: Pathogenic (in GEFSP2 and DRVT)
- Population evidence available
- Structural context available
- Cited in: A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. (PMID 10486327)
- Cited in: Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. (PMID 10742094)