G123D (p.Gly123Asp) variant of CARD11 (Q9BXL7)
G123D (p.Gly123Asp) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G123D (p.Gly123Asp) variant details
- p.Gly123Asp
- rs571517554
- ClinGen CA185998
- ClinVar RCV000162028
- ClinVar RCV001850281
- Pathogenic
- BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.22
- CADD 25.20
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Pathogenic (BENTA disease; Severe combined immunodeficiency due to CARD11 de)
- EBI: Pathogenic (in BENTA)
- UniProt: Pathogenic (in BENTA)
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Cited in: Congenital B cell lymphocytosis explained by novel germline CARD11 mutations. (PMID 23129749)
- Cited in: Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis. (PMID 25352053)