S5* (p.Ser5Ter) variant of ACE (Angiotensin-converting enzyme)
S5* (p.Ser5Ter) in ACE (Angiotensin-converting enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S5* (p.Ser5Ter) variant details
- p.Ser5Ter
- gnomAD 17-63477108-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available