Y170N (p.Tyr170Asn) variant of STAT1 (P42224)
Y170N (p.Tyr170Asn) 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 0.49 / 1. The record also includes published literature and structural context.
Y170N (p.Tyr170Asn) variant details
- p.Tyr170Asn
- rs387906766
- ClinGen CA128940
- ClinVar RCV000022994
- UniProt VAR 065936
- Pathogenic
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 0.72
- MetaLR 0.33
- MetaSVM -0.32
- PolyPhen-2 0.75
- SIFT 0.00
- EVE 0.55
- 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)