H79H (p.His79His) variant of EDN1 (Endothelin-1)
H79H (p.His79His) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
H79H (p.His79His) variant details
- p.His79His
- rs762278997
- gnomAD 6-12293944-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 8.94
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available