E27D (p.Glu27Asp) variant of EDN1 (Endothelin-1)
E27D (p.Glu27Asp) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- TOPMed rs1762705280
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.20
- MetaLR 0.26
- MetaSVM -0.71
- CADD 18.40
- PolyPhen-2 0.03
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available