E98* (p.Glu98Ter) variant of EDNRB (Endothelin receptor type B)
E98* (p.Glu98Ter) in EDNRB (Endothelin receptor type B) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E98* (p.Glu98Ter) variant details
- p.Glu98Ter
- rs2501608750
- ClinGen CA388452649
- ClinVar RCV003989082
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available