D60D (p.Asp60Asp) variant of EDN1 (Endothelin-1)
D60D (p.Asp60Asp) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
D60D (p.Asp60Asp) variant details
- p.Asp60Asp
- gnomAD 6-12292456-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.697
- CADD 14.10
- Population evidence available
- Structural context available
- Literature evidence available