p.Pro15dup variant of ACE (Angiotensin-converting enzyme)
p.Pro15dup in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro15dup variant details
- gnomAD 17-63477135-T-TGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.162
- CADD 11.50
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.55)
- Structural context available
- Literature evidence available