E33G (p.Glu33Gly) variant of EDN1 (Endothelin-1)
E33G (p.Glu33Gly) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E33G (p.Glu33Gly) variant details
- p.Glu33Gly
- TOPMed rs1474510268
- gnomAD rs1474510268
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.28
- MetaLR 0.23
- MetaSVM -0.91
- CADD 15.10
- SIFT 0.16
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available