V1309F (p.Val1309Phe) variant of SCN9A (Nav1.7)
V1309F (p.Val1309Phe) in SCN9A (Nav1.7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Paroxysmal extreme pain disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
V1309F (p.Val1309Phe) variant details
- p.Val1309Phe
- rs121908912
- ClinGen CA118146
- ClinVar RCV000006730
- UniProt VAR 032017
- Pathogenic
- Paroxysmal extreme pain disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- MetaLR 0.98
- MetaSVM 1.08
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Paroxysmal extreme pain disorder)
- EBI: Pathogenic (in PEXPD)
- UniProt: Pathogenic (in PEXPD)
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available
- Cited in: SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. (PMID 17145499)
- Cited in: SCN9A Neuropathic Pain Syndromes. (PMID 20301342)