E124R (p.Glu124Arg) variant of IL12RB1 (P42701)
E124R (p.Glu124Arg) in IL12RB1 (P42701) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic.
E124R (p.Glu124Arg) variant details
- p.Glu124Arg
- rs2146389344
- ClinGen CA2573054740
- ClinVar RCV001779409
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic