S672R (p.Ser672Arg) variant of HCN4 (Q9Y3Q4)
S672R (p.Ser672Arg) 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 0.82 / 1. The record also includes published literature and structural context.
S672R (p.Ser672Arg) variant details
- p.Ser672Arg
- rs104894488
- ClinGen CA117310
- ClinVar RCV000005481
- UniProt VAR 026535
- Pathogenic
- Sick sinus syndrome 2, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Sick sinus syndrome 2, autosomal dominant)
- EBI: Pathogenic (in SSS2)
- UniProt: Pathogenic (in SSS2)
- Structural context available
- Cited in: Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel. (PMID 16407510)
- Cited in: Local and global interpretations of a disease-causing mutation near the ligand entry path in… (PMID 23103389)