G73R (p.Gly73Arg) variant of HCN4 (Q9Y3Q4)
G73R (p.Gly73Arg) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G73R (p.Gly73Arg) variant details
- p.Gly73Arg
- rs2043137805
- ClinGen CA393098687
- ClinVar RCV002432879
- gnomAD rs2043137805
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.30
- MetaLR 0.81
- MetaSVM 0.30
- CADD 20.20
- PolyPhen-2 0.28
- SIFT 0.41
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available