V1309D (p.Val1309Asp) variant of SCN9A (Nav1.7)
V1309D (p.Val1309Asp) 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 0.95 / 1. The record also includes published literature and structural context.
V1309D (p.Val1309Asp) variant details
- p.Val1309Asp
- rs121908911
- ClinGen CA118143
- ClinVar RCV000006729
- UniProt VAR 032016
- Pathogenic
- Paroxysmal extreme pain disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- SIFT 0.00
- EVE 0.92
- MutPred 0.78
- ClinVar: Pathogenic (Paroxysmal extreme pain disorder)
- EBI: Pathogenic (in PEXPD)
- UniProt: Pathogenic (in PEXPD)
- 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)