E96K (p.Glu96Lys) variant of CARD11 (Q9BXL7)
E96K (p.Glu96Lys) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 11b with atopic dermatitis. The record also includes structural context.
E96K (p.Glu96Lys) variant details
- p.Glu96Lys
- rs2535136131
- ClinGen CA366647506
- ClinVar RCV002287583
- Uncertain significance
- Immunodeficiency 11b with atopic dermatitis
- Missense
- ClinVar: Uncertain significance (Immunodeficiency 11b with atopic dermatitis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available