R931H (p.Arg931His) variant of SCN1A (Nav1.1)
R931H (p.Arg931His) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R931H (p.Arg931His) variant details
- p.Arg931His
- rs794726718
- ClinGen CA303154
- ClinVar RCV000180822
- ClinVar RCV000412755
- Pathogenic
- Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Severe myoclonic epilepsy in infancy)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Genotype-phenotype associations in SCN1A-related epilepsies. (PMID 21248271)
- Cited in: Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. (PMID 21719429)