E20D (p.Glu20Asp) variant of EDN1 (Endothelin-1)
E20D (p.Glu20Asp) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- gnomAD 6-12290689-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.13
- MetaLR 0.22
- MetaSVM -0.84
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available