Y65Y (p.Tyr65Tyr) variant of EDN1 (Endothelin-1)
Y65Y (p.Tyr65Tyr) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Y65Y (p.Tyr65Tyr) variant details
- p.Tyr65Tyr
- rs778544643
- gnomAD 6-12292471-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 13.80
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available