Q16* (p.Gln16Ter) variant of EDN1 (Endothelin-1)
Q16* (p.Gln16Ter) in EDN1 (Endothelin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Q16* (p.Gln16Ter) variant details
- p.Gln16Ter
- gnomAD 6-12290675-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available