L834R (p.Leu834Arg) variant of SCN9A (Nav1.7)
L834R (p.Leu834Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
L834R (p.Leu834Arg) variant details
- p.Leu834Arg
- rs80356473
- ClinGen CA341933
- ClinVar RCV000020512
- gnomAD rs80356473
- Likely pathogenic
- Primary erythromelalgia
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- SIFT 0.00
- EVE 0.86
- MutPred 0.97
- ClinVar: Likely pathogenic (Primary erythromelalgia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SCN9A Neuropathic Pain Syndromes. (PMID 20301342)