L12L (p.Leu12Leu) variant of ACE (Angiotensin-converting enzyme)
L12L (p.Leu12Leu) in ACE (Angiotensin-converting enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- gnomAD 17-63477128-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.185
- CADD 5.67
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available