G126A (p.Gly126Ala) variant of CARD11 (Q9BXL7)
G126A (p.Gly126Ala) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G126A (p.Gly126Ala) variant details
- p.Gly126Ala
- rs1423056320
- ClinGen CA366647285
- ClinVar RCV001996695
- gnomAD rs1423056320
- Uncertain significance
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.34
- AlphaMissense 0.97
- MetaLR 0.26
- MetaSVM -0.49
- CADD 25.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available