W73* (p.Trp73Ter) variant of IFNGR1 (Interferon gamma receptor 1)
W73* (p.Trp73Ter) in IFNGR1 (Interferon gamma receptor 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W73* (p.Trp73Ter) variant details
- p.Trp73Ter
- rs2548235597
- ClinGen CA365775930
- ClinVar RCV003887366
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available