L28R (p.Leu28Arg) variant of ACE (Angiotensin-converting enzyme)
L28R (p.Leu28Arg) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L28R (p.Leu28Arg) variant details
- p.Leu28Arg
- gnomAD 17-63477177-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.08
- CADD 4.50
- Population evidence available
- Structural context available
- Literature evidence available