C28R (p.Cys28Arg) variant of CARD11 (Q9BXL7)
C28R (p.Cys28Arg) 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; Inborn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
C28R (p.Cys28Arg) variant details
- p.Cys28Arg
- rs2535142031
- ClinGen CA366647981
- ClinVar RCV003012133
- ClinVar RCV005308892
- Uncertain significance
- BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency; Inborn
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.33
- CADD 22.30
- PolyPhen-2 0.42
- SIFT 0.13
- ClinVar: Uncertain significance (BENTA disease; Severe combined immunodeficiency due to CARD11 de)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)