A27P (p.Ala27Pro) variant of ACE (Angiotensin-converting enzyme)
A27P (p.Ala27Pro) in ACE (Angiotensin-converting enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A27P (p.Ala27Pro) variant details
- p.Ala27Pro
- gnomAD 17-63477172-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 19.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available