L12M (p.Leu12Met) variant of ACE (Angiotensin-converting enzyme)
L12M (p.Leu12Met) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L12M (p.Leu12Met) variant details
- p.Leu12Met
- Ensembl rs2049628222
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.01
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.06
- MetaSVM -1.03
- CADD 6.63
- Most common in the HGDP:LAHU population (allele frequency 1)
- Structural context available