F216S (p.Phe216Ser) variant of SCN9A (Nav1.7)
F216S (p.Phe216Ser) 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 0.96 / 1. The record also includes published literature and structural context.
F216S (p.Phe216Ser) variant details
- p.Phe216Ser
- rs80356469
- ClinGen CA340557
- ClinVar RCV000006737
- UniProt VAR 064598
- Pathogenic
- Primary erythromelalgia
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- SIFT 0.00
- EVE 0.90
- MutPred 0.94
- 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: Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy. (PMID 16988069)