C19* (p.Cys19Ter) variant of EDNRB (Endothelin receptor type B)
C19* (p.Cys19Ter) in EDNRB (Endothelin receptor type B) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
C19* (p.Cys19Ter) variant details
- p.Cys19Ter
- rs768126403
- ClinGen CA388453132
- ClinVar RCV000721946
- ExAC rs768126403
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available