R46G (p.Arg46Gly) variant of HCN4 (Q9Y3Q4)
R46G (p.Arg46Gly) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R46G (p.Arg46Gly) variant details
- p.Arg46Gly
- rs2549080654
- ClinGen CA393098913
- ClinVar RCV003003325
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.33
- MetaLR 0.72
- MetaSVM 0.15
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.00
- 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)