C82* (p.Cys82Ter) variant of IL2RA (P01589)
C82* (p.Cys82Ter) in IL2RA (P01589) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C82* (p.Cys82Ter) variant details
- p.Cys82Ter
- rs774803573
- ClinGen CA375929659
- ClinVar RCV000814187
- ExAC rs774803573
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available