Q12E (p.Gln12Glu) variant of IFNGR1 (Interferon gamma receptor 1)
Q12E (p.Gln12Glu) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Disseminated atypical mycobacterial infection. The record also includes structural context.
Q12E (p.Gln12Glu) variant details
- p.Gln12Glu
- rs2548247404
- ClinGen CA365776485
- ClinVar RCV003596908
- ClinVar RCV004765896
- Uncertain significance
- not provided; Disseminated atypical mycobacterial infection
- Missense
- ClinVar: Uncertain significance (not provided; Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available