R47H (p.Arg47His) variant of CARD11 (Q9BXL7)
R47H (p.Arg47His) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R47H (p.Arg47His) variant details
- p.Arg47His
- rs765680532
- ClinGen CA4132883
- ClinVar RCV000651145
- ClinVar RCV004719916
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.62
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available