L20S (p.Leu20Ser) variant of ACE (Angiotensin-converting enzyme)
L20S (p.Leu20Ser) in ACE (Angiotensin-converting enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L20S (p.Leu20Ser) variant details
- p.Leu20Ser
- rs752411292
- gnomAD 17-63477152-TTGCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 23.90
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Literature evidence available