G482R (p.Gly482Arg) variant of HCN4 (Q9Y3Q4)
G482R (p.Gly482Arg) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; not provided; Brugada syndrome 8. 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.
G482R (p.Gly482Arg) variant details
- p.Gly482Arg
- rs794727637
- ClinGen CA16043942
- ClinVar RCV000415605
- ClinVar RCV001729574
- Pathogenic
- Cardiovascular phenotype; not provided; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.98
- MetaLR 0.98
- MetaSVM 1.04
- CADD 24.70
- SIFT 0.00
- ClinVar: Pathogenic (Brugada syndrome 8)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy. (PMID 25145517)
- Cited in: The symptom complex of familial sinus node dysfunction and myocardial noncompaction is associated with mutations in the… (PMID 25145518)