R45S (p.Arg45Ser) variant of HCN4 (Q9Y3Q4)
R45S (p.Arg45Ser) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R45S (p.Arg45Ser) variant details
- p.Arg45Ser
- rs2043138489
- ClinGen CA393098920
- ClinVar RCV002949405
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.45
- MetaLR 0.82
- MetaSVM 0.37
- CADD 23.10
- PolyPhen-2 0.42
- 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)