I859T (p.Ile859Thr) variant of SCN9A (Nav1.7)
I859T (p.Ile859Thr) in SCN9A (Nav1.7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SCN9A-related peripheral neuropathies associated with increased pain; Generalize. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
I859T (p.Ile859Thr) variant details
- p.Ile859Thr
- rs80356474
- ClinGen CA340545
- cosmic curated COSV57598
- ClinVar RCV000006722
- Pathogenic
- SCN9A-related peripheral neuropathies associated with increased pain; Generalize
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 0.85
- MetaLR 0.97
- MetaSVM 1.10
- SIFT 0.00
- EVE 0.61
- MutPred 0.94
- ClinVar: Pathogenic (SCN9A-related peripheral neuropathies associated with increased)
- EBI: Pathogenic (in PERYTHM)
- UniProt: Pathogenic (in PERYTHM)
- Structural context available
- Cited in: Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. (PMID 14985375)
- Cited in: Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy. (PMID 15385606)