E57D (p.Glu57Asp) variant of CARD11 (Q9BXL7)
E57D (p.Glu57Asp) in CARD11 (Q9BXL7) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in IMD11B. The record also includes published literature and structural context.
E57D (p.Glu57Asp) variant details
- p.Glu57Asp
- UniProt VAR 079284
- Pathogenic
- in IMD11B
- Missense
- EBI: Pathogenic (in IMD11B)
- UniProt: Pathogenic (in IMD11B)
- Structural context available
- Cited in: Germline hypomorphic CARD11 mutations in severe atopic disease. (PMID 28628108)