A14A (p.Ala14Ala) variant of EDN1 (Endothelin-1)
A14A (p.Ala14Ala) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- rs1444035458
- gnomAD 6-12290671-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.264
- CADD 14.80
- Population evidence available
- Structural context available
- Literature evidence available