p.Leu14dup variant of ACE (Angiotensin-converting enzyme)
p.Leu14dup in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu14dup variant details
- rs900084108
- gnomAD 17-63477126-G-GGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.561
- CADD 10.90
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.55)
- Structural context available
- Literature evidence available