L58M (p.Leu58Met) variant of EDN1 (Endothelin-1)
L58M (p.Leu58Met) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L58M (p.Leu58Met) variant details
- p.Leu58Met
- ExAC rs754711482
- gnomAD rs754711482
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.36
- MetaLR 0.54
- MetaSVM 0.16
- CADD 21.90
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available