T117P (p.Thr117Pro) variant of CARD11 (Q9BXL7)
T117P (p.Thr117Pro) 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 published literature and structural context.
T117P (p.Thr117Pro) variant details
- p.Thr117Pro
- rs2535135970
- ClinGen CA366647362
- ClinVar RCV002286324
- ClinVar RCV003774945
- Uncertain significance
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease
- Missense
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)
- Cited in: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for… (PMID 23619274)