L12R (p.Leu12Arg) variant of ACE (Angiotensin-converting enzyme)
L12R (p.Leu12Arg) in ACE (Angiotensin-converting enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- gnomAD 17-63477119-GGGCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 27.80
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Literature evidence available