p.Leu16 Pro23del variant of ACE (Angiotensin-converting enzyme)
p.Leu16 Pro23del in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu16 Pro23del variant details
- rs983649759
- gnomAD 17-63477128-CTGCT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 16.30
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available
- Literature evidence available