p.Pro17 Leu18del variant of ACE (Angiotensin-converting enzyme)
p.Pro17 Leu18del 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.Pro17 Leu18del variant details
- rs532691783
- gnomAD 17-63477132-TGCTG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 10.70
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.55)
- Structural context available
- Cited in: Genetic Variation in Hydrochlorothiazide Response-Related Genes Among Hypertensive Individuals in Soweto, South Africa. (PMID 40681478)