G44S (p.Gly44Ser) variant of IRF8 (Interferon regulatory factor 8)
G44S (p.Gly44Ser) 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 Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to. The record also includes structural context.
G44S (p.Gly44Ser) variant details
- p.Gly44Ser
- rs2544996528
- ClinGen CA397000341
- ClinVar RCV003027722
- Uncertain significance
- Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- ClinVar: Uncertain significance (Immunodeficiency 32B; Mendelian susceptibility to mycobacterial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available