C15L (p.Cys15Leu) variant of EDN1 (Endothelin-1)
C15L (p.Cys15Leu) in EDN1 (Endothelin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
C15L (p.Cys15Leu) variant details
- p.Cys15Leu
- rs372164724
- gnomAD 6-12290670-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 25.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available