M59V (p.Met59Val) variant of EDN1 (Endothelin-1)
M59V (p.Met59Val) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
M59V (p.Met59Val) variant details
- p.Met59Val
- gnomAD 6-12292451-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.39
- CADD 22.60
- PolyPhen-2 0.39
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available