L4L (p.Leu4Leu) variant of EDN1 (Endothelin-1)
L4L (p.Leu4Leu) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L4L (p.Leu4Leu) variant details
- p.Leu4Leu
- gnomAD 6-12290641-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 10.40
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available