L16C (p.Leu16Cys) variant of ACE (Angiotensin-converting enzyme)
L16C (p.Leu16Cys) in ACE (Angiotensin-converting enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L16C (p.Leu16Cys) variant details
- p.Leu16Cys
- rs1568034804
- gnomAD 17-63477138-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 21.80
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available
- Literature evidence available