L22V (p.Leu22Val) variant of ACE (Angiotensin-converting enzyme)
L22V (p.Leu22Val) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- gnomAD rs2049629392
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.08
- MetaLR 0.06
- MetaSVM -0.87
- CADD 2.92
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available