L12V (p.Leu12Val) variant of ACE (Angiotensin-converting enzyme)
L12V (p.Leu12Val) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- gnomAD 17-63477128-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.02
- ESM-1b 0.64
- AlphaMissense 0.07
- MetaLR 0.05
- MetaSVM -1.04
- CADD 5.74
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available