L28W (p.Leu28Trp) variant of ACE (Angiotensin-converting enzyme)
L28W (p.Leu28Trp) in ACE (Angiotensin-converting enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L28W (p.Leu28Trp) variant details
- p.Leu28Trp
- gnomAD 17-63477173-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 21.60
- Population evidence available
- Structural context available
- Literature evidence available