K286I (p.Lys286Ile) variant of STAT1 (P42224)
K286I (p.Lys286Ile) 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 0.50 / 1. The record also includes published literature and structural context.
K286I (p.Lys286Ile) variant details
- p.Lys286Ile
- rs387906761
- ClinGen CA128930
- ClinVar RCV000022989
- UniProt VAR 065944
- Pathogenic
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- AlphaMissense 0.97
- MetaLR 0.46
- MetaSVM 0.00
- PolyPhen-2 0.15
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- 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)