L30L (p.Leu30Leu) variant of ACE (Angiotensin-converting enzyme)
L30L (p.Leu30Leu) in ACE (Angiotensin-converting enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- rs1238903566
- gnomAD 17-63477182-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 10.20
- Most common in the HGDP:LAHU population (allele frequency 1)
- Structural context available
- Literature evidence available