R878H (p.Arg878His) variant of SCN5A (Nav1.5)
R878H (p.Arg878His) 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; not provided; Brugada syndrome. 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.
R878H (p.Arg878His) variant details
- p.Arg878His
- rs199473587
- ClinGen CA016340
- ClinVar RCV000058514
- ClinVar RCV001753475
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.97
- MetaLR 0.95
- MetaSVM 1.11
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Brugada syndrome)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)