L869F (p.Leu869Phe) variant of SCN9A (Nav1.7)
L869F (p.Leu869Phe) in SCN9A (Nav1.7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary erythromelalgia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
L869F (p.Leu869Phe) variant details
- p.Leu869Phe
- rs80356476
- ClinGen CA340554
- ClinVar RCV000006736
- UniProt VAR 064609
- Pathogenic
- Primary erythromelalgia
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.11
- SIFT 0.00
- EVE 0.91
- MutPred 0.93
- ClinVar: Pathogenic (Primary erythromelalgia)
- EBI: Pathogenic (in PERYTHM)
- UniProt: Pathogenic (in PERYTHM)
- Structural context available
- Cited in: SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. (PMID 15955112)
- Cited in: Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7. (PMID 16392115)