Q886E (p.Gln886Glu) variant of SCN9A (Nav1.7)
Q886E (p.Gln886Glu) in SCN9A (Nav1.7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary erythromelalgia. The record also includes published literature and structural context.
Q886E (p.Gln886Glu) variant details
- p.Gln886Glu
- rs2468003378
- ClinGen CA349077870
- ClinVar RCV003148413
- Likely pathogenic
- Primary erythromelalgia
- Missense
- ClinVar: Likely pathogenic (Primary erythromelalgia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SCN9A Neuropathic Pain Syndromes. (PMID 20301342)