V389L (p.Val389Leu) variant of STAT1 (P42224)
V389L (p.Val389Leu) 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 0.76 / 1. The record also includes published literature and structural context.
V389L (p.Val389Leu) variant details
- p.Val389Leu
- rs1574648928
- ClinGen CA349919081
- ClinVar RCV000991273
- Ensembl rs1574648928
- Pathogenic
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.94
- MetaLR 0.77
- MetaSVM 0.68
- PolyPhen-2 0.79
- SIFT 0.01
- EVE 0.61
- ClinVar: Pathogenic (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency. (PMID 30317461)