L16R (p.Leu16Arg) variant of ACE (Angiotensin-converting enzyme)
L16R (p.Leu16Arg) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L16R (p.Leu16Arg) variant details
- p.Leu16Arg
- gnomAD 17-63477141-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.05
- MetaSVM -1.09
- CADD 10.80
- Population evidence available
- Structural context available
- Literature evidence available