F172L (p.Phe172Leu) variant of STAT1 (P42224)
F172L (p.Phe172Leu) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, 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.
F172L (p.Phe172Leu) variant details
- p.Phe172Leu
- rs2470526475
- ClinGen CA349924387
- ClinVar RCV003800234
- cosmic curated COSV63116
- Likely pathogenic
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien
- Missense
- ClinVar: Likely pathogenic (Mendelian susceptibility to mycobacterial diseases due to partia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available