R72G (p.Arg72Gly) variant of CARD11 (Q9BXL7)
R72G (p.Arg72Gly) 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 0.51 / 1. The record also includes structural context.
R72G (p.Arg72Gly) variant details
- p.Arg72Gly
- rs1780505575
- ClinGen CA366647674
- ClinVar RCV001226050
- TOPMed rs1780505575
- Uncertain significance
- BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- AlphaMissense 0.92
- MetaLR 0.39
- MetaSVM -0.22
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.60
- ClinVar: Uncertain significance (BENTA disease; Severe combined immunodeficiency due to CARD11 de)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available