Q96* (p.Gln96Ter) variant of IL2RB (P14784)
Q96* (p.Gln96Ter) in IL2RB (P14784) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
Q96* (p.Gln96Ter) variant details
- p.Gln96Ter
- rs1569044747
- ClinGen CA411428742
- ClinVar RCV000709690
- Ensembl rs1569044747
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic