P82L (p.Pro82Leu) variant of EDN1 (Endothelin-1)
P82L (p.Pro82Leu) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P82L (p.Pro82Leu) variant details
- p.Pro82Leu
- ESP rs139407538
- ExAC rs139407538
- TOPMed rs139407538
- gnomAD rs139407538
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.74
- MetaLR 0.83
- MetaSVM 0.78
- CADD 26.50
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available