C67C (p.Cys67Cys) variant of EDN1 (Endothelin-1)
C67C (p.Cys67Cys) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
C67C (p.Cys67Cys) variant details
- p.Cys67Cys
- rs747917285
- gnomAD 6-12292477-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 14.70
- Population evidence available
- Structural context available
- Literature evidence available