K388E (p.Lys388Glu) variant of STAT1 (P42224)
K388E (p.Lys388Glu) 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 0.80 / 1. The record also includes population frequency data and structural context.
K388E (p.Lys388Glu) variant details
- p.Lys388Glu
- rs1559011859
- ClinGen CA349919100
- ClinVar RCV002651582
- Pathogenic
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.90
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.71
- CADD 26.80
- PolyPhen-2 0.99
- ClinVar: Pathogenic (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available