E62E (p.Glu62Glu) variant of EDN1 (Endothelin-1)
E62E (p.Glu62Glu) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E62E (p.Glu62Glu) variant details
- p.Glu62Glu
- rs896673576
- gnomAD 6-12292462-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 12.20
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available