R7H (p.Arg7His) variant of ACE (Angiotensin-converting enzyme)
R7H (p.Arg7His) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R7H (p.Arg7His) variant details
- p.Arg7His
- gnomAD 17-63477114-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0982
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.04
- MetaSVM -1.05
- CADD 3.41
- Population evidence available
- Structural context available
- Literature evidence available