E28* (p.Glu28Ter) variant of HCN4 (Q9Y3Q4)
E28* (p.Glu28Ter) in HCN4 (Q9Y3Q4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- rs867068803
- ClinGen CA272700586
- ClinVar RCV002430347
- Ensembl rs867068803
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.796
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available