P44L (p.Pro44Leu) variant of EDN1 (Endothelin-1)
P44L (p.Pro44Leu) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- TOPMed rs1193581265
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.36
- MetaLR 0.48
- MetaSVM -0.12
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available