C49Y (p.Cys49Tyr) variant of CARD11 (Q9BXL7)
C49Y (p.Cys49Tyr) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
C49Y (p.Cys49Tyr) variant details
- p.Cys49Tyr
- rs794729673
- ClinGen CA203896
- NCI-TCGA Cosmic COSV6271
- ClinVar RCV000185616
- Pathogenic
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.59
- CADD 25.90
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation. (PMID 25930198)