R47S (p.Arg47Ser) variant of CARD11 (Q9BXL7)
R47S (p.Arg47Ser) 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 0.44 / 1. The record also includes structural context.
R47S (p.Arg47Ser) variant details
- p.Arg47Ser
- rs1780507453
- ClinGen CA366647852
- ClinVar RCV002029274
- TOPMed rs1780507453
- Uncertain significance
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- AlphaMissense 1.00
- MetaLR 0.21
- MetaSVM -0.62
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available