p.Leu13 Leu14del variant of ACE (Angiotensin-converting enzyme)
p.Leu13 Leu14del in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu13 Leu14del variant details
- rs900084108
- gnomAD 17-63477126-GGCTG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 10.50
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available
- Literature evidence available