T385M (p.Thr385Met) variant of STAT1 (P42224)
T385M (p.Thr385Met) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inherited Immunodeficiency Diseases; Autoimmune enteropathy and endocrinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
T385M (p.Thr385Met) variant details
- p.Thr385Met
- rs587777630
- ClinGen CA170572
- NCI-TCGA Cosmic COSV6311
- cosmic curated COSV63116
- Pathogenic
- Inherited Immunodeficiency Diseases; Autoimmune enteropathy and endocrinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- AlphaMissense 0.68
- MetaLR 0.69
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Inherited Immunodeficiency Diseases; Autoimmune enteropathy and)
- EBI: Pathogenic (in IMD31C)
- UniProt: Pathogenic (in IMD31C)
- Structural context available
- Cited in: Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune… (PMID 23534974)
- Cited in: Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated… (PMID 23541320)