G83R (p.Gly83Arg) variant of HCN4 (Q9Y3Q4)
G83R (p.Gly83Arg) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G83R (p.Gly83Arg) variant details
- p.Gly83Arg
- rs2043137577
- ClinGen CA393098602
- ClinVar RCV001050282
- TOPMed rs2043137577
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.27
- MetaLR 0.66
- MetaSVM -0.10
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)