L20F (p.Leu20Phe) variant of ACE (Angiotensin-converting enzyme)
L20F (p.Leu20Phe) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L20F (p.Leu20Phe) variant details
- p.Leu20Phe
- gnomAD 17-63477154-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.08
- MetaLR 0.07
- MetaSVM -1.04
- CADD 6.36
- Population evidence available
- Structural context available
- Literature evidence available