S47R (p.Ser47Arg) variant of HCN4 (Q9Y3Q4)
S47R (p.Ser47Arg) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S47R (p.Ser47Arg) variant details
- p.Ser47Arg
- rs2549080651
- ClinGen CA393098899
- ClinVar RCV002389187
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.64
- MetaLR 0.94
- MetaSVM 1.10
- CADD 25.80
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available