p.Ala27 Pro36del variant of ACE (Angiotensin-converting enzyme)
p.Ala27 Pro36del in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala27 Pro36del variant details
- gnomAD 17-63477165-CGCAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 18.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available