R241W (p.Arg241Trp) variant of STAT1 (P42224)
R241W (p.Arg241Trp) in STAT1 (P42224) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of STAT1-related disorder; Mendelian susceptibility to mycobacterial diseases due t. The record also includes structural context.
R241W (p.Arg241Trp) variant details
- p.Arg241Trp
- NCI-TCGA Cosmic COSV6118
- cosmic curated COSV61189
- Pathogenic
- STAT1-related disorder; Mendelian susceptibility to mycobacterial diseases due t
- Missense
- ClinVar: Pathogenic (STAT1-related disorder; Mendelian susceptibility to mycobacteria)
- UniProt: Pathogenic
- Structural context available