L12C (p.Leu12Cys) variant of ACE (Angiotensin-converting enzyme)
L12C (p.Leu12Cys) in ACE (Angiotensin-converting enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L12C (p.Leu12Cys) variant details
- p.Leu12Cys
- gnomAD 17-63477123-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 13.10
- Population evidence available
- Structural context available
- Literature evidence available