P19L (p.Pro19Leu) variant of EDN1 (Endothelin-1)
P19L (p.Pro19Leu) 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 and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- ExAC rs770493724
- TOPMed rs770493724
- gnomAD rs770493724
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.22
- MetaLR 0.31
- MetaSVM -0.62
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.74
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available