R68W (p.Arg68Trp) variant of HCN4 (Q9Y3Q4)
R68W (p.Arg68Trp) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R68W (p.Arg68Trp) variant details
- p.Arg68Trp
- TOPMed rs962306052
- gnomAD rs962306052
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.32
- MetaLR 0.79
- MetaSVM 0.27
- CADD 23.60
- PolyPhen-2 0.45
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available