M59I (p.Met59Ile) variant of EDN1 (Endothelin-1)
M59I (p.Met59Ile) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
M59I (p.Met59Ile) variant details
- p.Met59Ile
- gnomAD 6-12292453-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.43
- CADD 28.10
- PolyPhen-2 0.49
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available