E1784K (p.Glu1784Lys) variant of SCN5A (Nav1.5)
E1784K (p.Glu1784Lys) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiac arrhythmia; SCN5A-related disorder; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E1784K (p.Glu1784Lys) variant details
- p.Glu1784Lys
- rs137854601
- ClinGen CA352141351
- cosmic curated COSV10465
- ClinVar RCV001842173
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; SCN5A-related disorder; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- AlphaMissense 0.64
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.26
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; SCN5A-related disorder; Cardiovascular pheno)
- EBI: Pathogenic (in LQT3 and BRGDA1)
- UniProt: Pathogenic (in LQT3 and BRGDA1)
- Population evidence available
- Structural context available
- Cited in: Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. (PMID 10377081)
- Cited in: Natural history of Brugada syndrome: insights for risk stratification and management. (PMID 11901046)