p.Leu22dup variant of ACE (Angiotensin-converting enzyme)
p.Leu22dup in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu22dup variant details
- gnomAD 17-63477152-T-TTG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 15.10
- Most common in the HGDP:DRUZE population (allele frequency 0.015)
- Structural context available
- Literature evidence available