E320Q (p.Glu320Gln) variant of STAT1 (P42224)
E320Q (p.Glu320Gln) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.92 / 1. The record also includes published literature and structural context.
E320Q (p.Glu320Gln) variant details
- p.Glu320Gln
- rs137852680
- ClinGen CA120080
- ClinVar RCV000009614
- UniProt VAR 065816
- Pathogenic
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (Mendelian susceptibility to mycobacterial diseases due to partia)
- EBI: Pathogenic (in IMD31A)
- UniProt: Pathogenic (in IMD31A)
- Structural context available
- Cited in: Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. (PMID 16934001)
- Cited in: Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. (PMID 11452125)