S5R (p.Ser5Arg) variant of ACE (Angiotensin-converting enzyme)
S5R (p.Ser5Arg) in ACE (Angiotensin-converting enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- gnomAD 17-63477106-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.427
- CADD 16.90
- Population evidence available
- Structural context available
- Literature evidence available