R46L (p.Arg46Leu) variant of EDN1 (Endothelin-1)
R46L (p.Arg46Leu) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R46L (p.Arg46Leu) variant details
- p.Arg46Leu
- rs1383893344
- ClinGen CA362856288
- ClinVar RCV002809558
- TOPMed rs1383893344
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.25
- MetaLR 0.40
- MetaSVM -0.32
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)