A26A (p.Ala26Ala) variant of EDN1 (Endothelin-1)
A26A (p.Ala26Ala) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A26A (p.Ala26Ala) variant details
- p.Ala26Ala
- rs760951012
- gnomAD 6-12292354-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0933
- CADD 1.78
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available