A1643E (p.Ala1643Glu) variant of SCN9A (Nav1.7)
A1643E (p.Ala1643Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
A1643E (p.Ala1643Glu) variant details
- p.Ala1643Glu
- rs879253994
- ClinGen CA10584162
- ClinVar RCV000235255
- ClinVar RCV000500437
- Pathogenic
- Paroxysmal extreme pain disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.93
- MetaLR 0.98
- MetaSVM 1.03
- SIFT 0.00
- EVE 0.91
- MutPred 0.81
- ClinVar: Pathogenic (Paroxysmal extreme pain disorder; not provided)
- EBI: Pathogenic (in PERYTHM and PEXPD)
- UniProt: Pathogenic (in PERYTHM and PEXPD)
- Structural context available
- Cited in: NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia… (PMID 18945915)
- Cited in: Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation. (PMID 24311784)