E134G (p.Glu134Gly) variant of CARD11 (Q9BXL7)
E134G (p.Glu134Gly) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of BENTA disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E134G (p.Glu134Gly) variant details
- p.Glu134Gly
- rs387907351
- ClinGen CA143684
- ClinVar RCV000041968
- UniProt VAR 069711
- Pathogenic
- BENTA disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.61
- CADD 29.20
- PolyPhen-2 0.98
- SIFT 0.04
- ClinVar: Pathogenic (BENTA disease)
- EBI: Pathogenic (in BENTA)
- UniProt: Pathogenic (in BENTA)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Congenital B cell lymphocytosis explained by novel germline CARD11 mutations. (PMID 23129749)
- Cited in: Germline hypomorphic CARD11 mutations in severe atopic disease. (PMID 28628108)