R46Q (p.Arg46Gln) variant of EDN1 (Endothelin-1)
R46Q (p.Arg46Gln) in EDN1 (Endothelin-1) is a missense change. Clinical records from ClinVar, EBI, 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 0.37 / 1. The record also includes population frequency data and structural context.
R46Q (p.Arg46Gln) variant details
- p.Arg46Gln
- TOPMed rs1383893344
- gnomAD rs1383893344
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.29
- MetaLR 0.34
- MetaSVM -0.57
- CADD 19.80
- PolyPhen-2 0.12
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available