S44R (p.Ser44Arg) variant of HCN4 (Q9Y3Q4)
S44R (p.Ser44Arg) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S44R (p.Ser44Arg) variant details
- p.Ser44Arg
- rs2043138506
- ClinGen CA393098936
- ClinVar RCV001222910
- TOPMed rs2043138506
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.26
- MetaLR 0.54
- MetaSVM -0.35
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 1.00
- 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)