R46P (p.Arg46Pro) variant of EDN1 (Endothelin-1)
R46P (p.Arg46Pro) in EDN1 (Endothelin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R46P (p.Arg46Pro) variant details
- p.Arg46Pro
- TOPMed rs1383893344
- gnomAD rs1383893344
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.32
- MetaLR 0.43
- MetaSVM -0.22
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available