K278E (p.Lys278Glu) variant of STAT1 (P42224)
K278E (p.Lys278Glu) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
K278E (p.Lys278Glu) variant details
- p.Lys278Glu
- rs863223398
- ClinGen CA278917
- ClinVar RCV000190349
- UniProt VAR 075495
- Pathogenic
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- AlphaMissense 0.63
- MetaLR 0.26
- MetaSVM -0.61
- PolyPhen-2 0.01
- SIFT 0.25
- EVE 0.34
- ClinVar: Pathogenic (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Pathogenic (in IMD31C)
- UniProt: Pathogenic (in IMD31C)
- Structural context available
- Cited in: Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired… (PMID 25288569)
- Cited in: STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. (PMID 21714643)