R45C (p.Arg45Cys) variant of HCN4 (Q9Y3Q4)
R45C (p.Arg45Cys) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R45C (p.Arg45Cys) variant details
- p.Arg45Cys
- TOPMed rs2043138489
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.55
- MetaLR 0.90
- MetaSVM 0.65
- CADD 25.70
- PolyPhen-2 0.80
- SIFT 0.00
- Population evidence available
- Structural context available