R11P (p.Arg11Pro) variant of HCN4 (Q9Y3Q4)
R11P (p.Arg11Pro) 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 record also includes published literature and structural context.
R11P (p.Arg11Pro) variant details
- p.Arg11Pro
- rs2549080759
- ClinGen CA393099234
- ClinVar RCV003833986
- Uncertain significance
- Brugada syndrome 8
- Missense
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)