R48C (p.Arg48Cys) variant of EDN1 (Endothelin-1)
R48C (p.Arg48Cys) 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 0.64 / 1. The record also includes population frequency data and structural context.
R48C (p.Arg48Cys) variant details
- p.Arg48Cys
- rs1239711154
- TOPMed rs1239711154
- gnomAD rs1239711154
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.49
- MetaLR 0.75
- MetaSVM 0.55
- CADD 29.20
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available