D17G (p.Asp17Gly) variant of CARD11 (Q9BXL7)
D17G (p.Asp17Gly) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D17G (p.Asp17Gly) variant details
- p.Asp17Gly
- rs1053147582
- ClinGen CA152755905
- ClinVar RCV000813459
- TOPMed rs1053147582
- Uncertain significance
- BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.18
- CADD 24.40
- ClinVar: Uncertain significance (BENTA disease; Severe combined immunodeficiency due to CARD11 de)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available