F1460V (p.Phe1460Val) variant of SCN9A (Nav1.7)
F1460V (p.Phe1460Val) 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 0.94 / 1. The record also includes published literature and structural context.
F1460V (p.Phe1460Val) variant details
- p.Phe1460Val
- rs80356478
- ClinGen CA340551
- NCI-TCGA Cosmic COSV5762
- cosmic curated COSV57625
- Pathogenic
- Primary erythromelalgia
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.07
- SIFT 0.00
- EVE 0.91
- MutPred 0.69
- ClinVar: Pathogenic (Primary erythromelalgia)
- EBI: Pathogenic (in PERYTHM)
- UniProt: Pathogenic (in PERYTHM)
- Structural context available
- Cited in: Autosomal dominant erythromelalgia. (PMID 1536168)
- Cited in: Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. (PMID 15958509)