I72M (p.Ile72Met) variant of EDN1 (Endothelin-1)
I72M (p.Ile72Met) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
I72M (p.Ile72Met) variant details
- p.Ile72Met
- gnomAD 6-12292492-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.81
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available