L869H (p.Leu869His) variant of SCN9A (Nav1.7)
L869H (p.Leu869His) in SCN9A (Nav1.7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
L869H (p.Leu869His) variant details
- p.Leu869His
- rs80356475
- ClinGen CA340542
- ClinVar RCV000006721
- ClinVar RCV002512849
- Pathogenic
- Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- SIFT 0.00
- EVE 0.92
- MutPred 0.94
- ClinVar: Pathogenic (Generalized epilepsy with febrile seizures plus, type 7; Neuropa)
- EBI: Pathogenic (in PERYTHM)
- UniProt: Pathogenic (in PERYTHM)
- Structural context available
- Cited in: Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. (PMID 14985375)
- Cited in: Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy. (PMID 15385606)