N179K (p.Asn179Lys) variant of STAT1 (P42224)
N179K (p.Asn179Lys) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.33 / 1. The record also includes published literature and structural context.
N179K (p.Asn179Lys) variant details
- p.Asn179Lys
- rs587777628
- ClinGen CA170566
- ClinVar RCV000133513
- UniProt VAR 075494
- Likely pathogenic
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- AlphaMissense 0.66
- MetaLR 0.17
- MetaSVM -0.79
- PolyPhen-2 0.00
- SIFT 0.41
- EVE 0.18
- ClinVar: Likely pathogenic (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Pathogenic (in IMD31C)
- UniProt: Pathogenic (in IMD31C)
- Structural context available
- Cited in: New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and… (PMID 23709754)
- Cited in: STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. (PMID 21714643)