E18A (p.Glu18Ala) variant of CARD11 (Q9BXL7)
E18A (p.Glu18Ala) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease. The record also includes structural context.
E18A (p.Glu18Ala) variant details
- p.Glu18Ala
- rs2535142144
- ClinGen CA366648053
- ClinVar RCV003815594
- Uncertain significance
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease
- Missense
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available