R20W (p.Arg20Trp) variant of IRAK4 (Q9NWZ3)
R20W (p.Arg20Trp) in IRAK4 (Q9NWZ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 67. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R20W (p.Arg20Trp) variant details
- p.Arg20Trp
- rs143625818
- ClinGen CA6522269
- ClinVar RCV001220131
- UniProt VAR 072889
- Uncertain significance
- Immunodeficiency 67
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 26.80
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 67)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00063)
- Structural context available
- Cited in: Functional assessment of the mutational effects of human IRAK4 and MyD88 genes. (PMID 24316379)