Q67P (p.Gln67Pro) variant of STAT1 (P42224)
Q67P (p.Gln67Pro) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Immunodeficiency 31B; Mendelian susceptibility to mycobacterial diseases due to. The record also includes structural context.
Q67P (p.Gln67Pro) variant details
- p.Gln67Pro
- rs2470565369
- ClinGen CA349927999
- ClinVar RCV003018891
- Pathogenic
- Immunodeficiency 31B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- ClinVar: Pathogenic (Immunodeficiency 31B; Mendelian susceptibility to mycobacterial)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available