D70D (p.Asp70Asp) variant of EDN1 (Endothelin-1)
D70D (p.Asp70Asp) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
D70D (p.Asp70Asp) variant details
- p.Asp70Asp
- gnomAD 6-12292486-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 14.50
- Population evidence available
- Structural context available
- Literature evidence available