E290Q (p.Glu290Gln) variant of STAT1 (P42224)
E290Q (p.Glu290Gln) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien. The record also includes structural context.
E290Q (p.Glu290Gln) variant details
- p.Glu290Gln
- ExAC rs750476767
- gnomAD rs750476767
- Pathogenic
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien
- Missense
- ClinVar: Pathogenic (Mendelian susceptibility to mycobacterial diseases due to partia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available