S44C (p.Ser44Cys) variant of HCN4 (Q9Y3Q4)
S44C (p.Ser44Cys) 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 0.34 / 1. The record also includes population frequency data and structural context.
S44C (p.Ser44Cys) variant details
- p.Ser44Cys
- rs2043138506
- ClinGen CA393098933
- ClinVar RCV002385392
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.33
- MetaLR 0.66
- MetaSVM -0.08
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available