L47L (p.Leu47Leu) variant of EDN1 (Endothelin-1)
L47L (p.Leu47Leu) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L47L (p.Leu47Leu) variant details
- p.Leu47Leu
- rs148565651
- gnomAD 6-12292417-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.22
- CADD 9.60
- Population evidence available
- Structural context available
- Literature evidence available