T288A (p.Thr288Ala) variant of STAT1 (P42224)
T288A (p.Thr288Ala) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Immunodeficiency 31B; Mendelian susceptibility to mycobacterial diseases due to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
T288A (p.Thr288Ala) variant details
- p.Thr288Ala
- rs387906765
- ClinGen CA128938
- ClinVar RCV000022993
- ClinVar RCV001852004
- Pathogenic
- Immunodeficiency 31B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.23
- MetaLR 0.26
- MetaSVM -0.70
- PolyPhen-2 0.49
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (Immunodeficiency 31B; Mendelian susceptibility to mycobacterial)
- EBI: Pathogenic (in IMD31C)
- UniProt: Pathogenic (in IMD31C)
- Structural context available
- Cited in: Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. (PMID 21727188)
- Cited in: STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. (PMID 21714643)