E284K (p.Glu284Lys) variant of STAT1 (P42224)
E284K (p.Glu284Lys) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inherited Immunodeficiency Diseases; Immunodeficiency 31B; Autoimmune enteropath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
E284K (p.Glu284Lys) variant details
- p.Glu284Lys
- rs1574657750
- ClinGen CA349921904
- ClinVar RCV001027627
- ClinVar RCV001040136
- Conflicting interpretations
- Inherited Immunodeficiency Diseases; Immunodeficiency 31B; Autoimmune enteropath
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- AlphaMissense 0.71
- MetaLR 0.24
- MetaSVM -0.72
- PolyPhen-2 0.07
- SIFT 0.49
- EVE 0.25
- ClinVar: Conflicting classifications of pathogenicity (Inherited Immunodeficiency Diseases; Immunodeficiency 31B; Autoi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available