C67G (p.Cys67Gly) variant of EDN1 (Endothelin-1)
C67G (p.Cys67Gly) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C67G (p.Cys67Gly) variant details
- p.Cys67Gly
- gnomAD 6-12292475-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available