E78E (p.Glu78Glu) variant of EDN1 (Endothelin-1)
E78E (p.Glu78Glu) in EDN1 (Endothelin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E78E (p.Glu78Glu) variant details
- p.Glu78Glu
- gnomAD 6-12293941-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 18.80
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available