R893H (p.Arg893His) variant of SCN5A (Nav1.5)
R893H (p.Arg893His) 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 Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R893H (p.Arg893His) variant details
- p.Arg893His
- rs199473172
- ClinGen CA016396
- ClinVar RCV000058518
- ClinVar RCV000766747
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.97
- MetaLR 0.98
- MetaSVM 1.04
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome 3)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)
- Cited in: Brugada Syndrome. (PMID 20301690)