L5L (p.Leu5Leu) variant of EDN1 (Endothelin-1)
L5L (p.Leu5Leu) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L5L (p.Leu5Leu) variant details
- p.Leu5Leu
- gnomAD 6-12290644-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.231
- CADD 11.40
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available