R12C (p.Arg12Cys) variant of IRAK4 (Q9NWZ3)
R12C (p.Arg12Cys) in IRAK4 (Q9NWZ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Immunodeficiency 67; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R12C (p.Arg12Cys) variant details
- p.Arg12Cys
- rs377584435
- ClinGen CA129367
- cosmic curated COSV71210
- ClinVar RCV000023583
- Conflicting interpretations
- Immunodeficiency 67; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Immunodeficiency 67; not provided)
- EBI: Pathogenic (in IMD67)
- UniProt: Pathogenic (in IMD67)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: TLR9 activation induces normal neutrophil responses in a child with IRAK-4 deficiency: involvement of the direct PI3K… (PMID 17878374)
- Cited in: Functional assessment of the mutational effects of human IRAK4 and MyD88 genes. (PMID 24316379)