R49P (p.Arg49Pro) variant of HCN4 (Q9Y3Q4)
R49P (p.Arg49Pro) 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 0.63 / 1. The record also includes published literature and structural context.
R49P (p.Arg49Pro) variant details
- p.Arg49Pro
- rs2043138348
- ClinGen CA393098883
- ClinVar RCV003615037
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- AlphaMissense 0.19
- MetaLR 0.79
- MetaSVM 0.51
- PolyPhen-2 0.27
- SIFT 0.01
- MutPred 0.32
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)