Y88* (p.Tyr88Ter) variant of IL12RB1 (P42701)
Y88* (p.Tyr88Ter) in IL12RB1 (P42701) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
Y88* (p.Tyr88Ter) variant details
- p.Tyr88Ter
- rs1202592147
- ClinGen CA404789960
- ClinVar RCV000788565
- ClinVar RCV004027370
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic