R274G (p.Arg274Gly) variant of STAT1 (P42224)
R274G (p.Arg274Gly) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
R274G (p.Arg274Gly) variant details
- p.Arg274Gly
- rs387906758
- ClinGen CA173962
- ClinVar RCV000148020
- ClinVar RCV000702712
- Pathogenic/Likely pathogenic
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- AlphaMissense 0.53
- MetaLR 0.56
- MetaSVM 0.22
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.60
- ClinVar: Pathogenic/Likely pathogenic (Mendelian susceptibility to mycobacterial diseases due to partia)
- EBI: Pathogenic (in IMD31C)
- UniProt: Pathogenic (in IMD31C)
- Structural context available
- Cited in: Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated… (PMID 23541320)