G84A (p.Gly84Ala) variant of IL12RB1 (P42701)
G84A (p.Gly84Ala) in IL12RB1 (P42701) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic.
G84A (p.Gly84Ala) variant details
- p.Gly84Ala
- rs1568515222
- ClinGen CA891843883
- ClinVar RCV000704573
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic