Y3C (p.Tyr3Cys) variant of EDN1 (Endothelin-1)
Y3C (p.Tyr3Cys) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Y3C (p.Tyr3Cys) variant details
- p.Tyr3Cys
- gnomAD 6-12290637-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.49
- MetaLR 0.37
- MetaSVM -0.62
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available