L22del (p.Leu22del) variant of ACE (Angiotensin-converting enzyme)
L22del (p.Leu22del) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L22del (p.Leu22del) variant details
- gnomAD 17-63477144-CGCT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 10.70
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available
- Literature evidence available