G480R (p.Gly480Arg) variant of HCN4 (Q9Y3Q4)
G480R (p.Gly480Arg) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Sick sinus syndrome 2, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
G480R (p.Gly480Arg) variant details
- p.Gly480Arg
- rs121908411
- ClinGen CA117313
- ClinVar RCV000005484
- Ensembl rs121908411
- Pathogenic
- Sick sinus syndrome 2, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.64
- ClinVar: Pathogenic (Sick sinus syndrome 2, autosomal dominant)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Point mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is… (PMID 17646576)