C84R (p.Cys84Arg) variant of IRF8 (Interferon regulatory factor 8)
C84R (p.Cys84Arg) in IRF8 (Interferon regulatory factor 8) 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 partial IRF8 deficienc. The record also includes structural context.
C84R (p.Cys84Arg) variant details
- p.Cys84Arg
- rs2545000986
- ClinGen CA397000631
- ClinVar RCV002304976
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficienc
- Missense
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to partia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available