E78G (p.Glu78Gly) variant of EDN1 (Endothelin-1)
E78G (p.Glu78Gly) in EDN1 (Endothelin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EDN1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E78G (p.Glu78Gly) variant details
- p.Glu78Gly
- ExAC rs770093045
- gnomAD rs770093045
- Uncertain significance
- EDN1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.22
- MetaLR 0.32
- MetaSVM -0.68
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.07
- ClinVar: Uncertain significance (EDN1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available