H558R (p.His558Arg) variant of SCN5A (Nav1.5)
H558R (p.His558Arg) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiac arrhythmia; Cardiovascular phenotype; Long QT syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
H558R (p.His558Arg) variant details
- p.His558Arg
- rs1805124
- ClinGen CA015145
- cosmic curated COSV61125
- ClinVar RCV000010000
- Pathogenic
- Cardiac arrhythmia; Cardiovascular phenotype; Long QT syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.29
- MetaLR 0.00
- MetaSVM -0.92
- CADD 0.53
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Pathogenic (Progressive familial heart block, type 1A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BIAKA population (allele frequency 0.64)
- Structural context available
- Cited in: Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. (PMID 11997281)
- Cited in: Novel mutations in domain I of SCN5A cause Brugada syndrome. (PMID 12051963)