Q102K (p.Gln102Lys) variant of IL12RB1 (P42701)
Q102K (p.Gln102Lys) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic.
Q102K (p.Gln102Lys) variant details
- p.Gln102Lys
- rs2035855899
- ClinGen CA404789881
- ClinVar RCV003749528
- TOPMed rs2035855899
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic
- Missense
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance