R8W (p.Arg8Trp) variant of IRF8 (Interferon regulatory factor 8)
R8W (p.Arg8Trp) in IRF8 (Interferon regulatory factor 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- rs1293439667
- ClinGen CA397000096
- ClinVar RCV001990157
- gnomAD rs1293439667
- Uncertain significance
- Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.82
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency 32B; Mendelian susceptibility to mycobacterial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available