Y701C (p.Tyr701Cys) variant of STAT1 (P42224)
Y701C (p.Tyr701Cys) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
Y701C (p.Tyr701Cys) variant details
- p.Tyr701Cys
- rs2124996723
- ClinGen CA349911881
- cosmic curated COSV10745
- ClinVar RCV002031476
- Pathogenic
- Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy)
- EBI: Pathogenic (in IMD31B)
- UniProt: Pathogenic (in IMD31B)
- 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: Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. (PMID 12590259)