R393H (p.Arg393His) variant of SCN1A (Nav1.1)
R393H (p.Arg393His) 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; Migraine, familial hemiplegic, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R393H (p.Arg393His) variant details
- p.Arg393His
- rs121917927
- ClinGen CA284871
- cosmic curated COSV10961
- ClinVar RCV000059378
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided; Migraine, familial hemiplegic, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 0.86
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided; Migraine, familial hemiplegic)
- EBI: Pathogenic (in DRVT and ICEGTC)
- UniProt: Pathogenic (in DRVT and ICEGTC)
- Structural context available
- Cited in: De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. (PMID 12754708)
- Cited in: Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. (PMID 17054685)