K298Q (p.Lys298Gln) variant of STAT1 (P42224)
K298Q (p.Lys298Gln) in STAT1 (P42224) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien. The record also includes structural context.
K298Q (p.Lys298Gln) variant details
- p.Lys298Gln
- cosmic curated COSV61190
- Likely pathogenic
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien
- Missense
- ClinVar: Likely pathogenic (Mendelian susceptibility to mycobacterial diseases due to partia)
- UniProt: Likely pathogenic (in IMD31C)
- Structural context available