G123S (p.Gly123Ser) variant of CARD11 (Q9BXL7)
G123S (p.Gly123Ser) 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; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G123S (p.Gly123Ser) variant details
- p.Gly123Ser
- rs387907352
- ClinGen CA143685
- ClinVar RCV000041969
- ClinVar RCV001057931
- Pathogenic
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.25
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Pathogenic (in BENTA)
- UniProt: Pathogenic (in BENTA)
- Population evidence available
- Structural context available
- Cited in: Oncogenic CARD11 mutations in human diffuse large B cell lymphoma. (PMID 18323416)
- Cited in: Congenital B cell lymphocytosis explained by novel germline CARD11 mutations. (PMID 23129749)