G867R (p.Gly867Arg) variant of SCN9A (Nav1.7)
G867R (p.Gly867Arg) in SCN9A (Nav1.7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
G867R (p.Gly867Arg) variant details
- p.Gly867Arg
- rs1697277352
- ClinGen CA349077986
- ClinVar RCV001325215
- Ensembl rs1697277352
- Pathogenic
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.11
- SIFT 0.01
- EVE 0.36
- ClinVar: Pathogenic (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)