L47V (p.Leu47Val) variant of EDN1 (Endothelin-1)
L47V (p.Leu47Val) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L47V (p.Leu47Val) variant details
- p.Leu47Val
- gnomAD 6-12292415-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.14
- CADD 13.90
- PolyPhen-2 0.04
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available