R46W (p.Arg46Trp) variant of EDN1 (Endothelin-1)
R46W (p.Arg46Trp) in EDN1 (Endothelin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R46W (p.Arg46Trp) variant details
- p.Arg46Trp
- ESP rs200759992
- ExAC rs200759992
- TOPMed rs200759992
- gnomAD rs200759992
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.41
- MetaLR 0.30
- MetaSVM -0.47
- CADD 11.00
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available