C15C (p.Cys15Cys) variant of EDN1 (Endothelin-1)
C15C (p.Cys15Cys) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
C15C (p.Cys15Cys) variant details
- p.Cys15Cys
- rs751638434
- gnomAD 6-12290674-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.382
- CADD 14.70
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available