R11Q (p.Arg11Gln) variant of IRF8 (Interferon regulatory factor 8)
R11Q (p.Arg11Gln) in IRF8 (Interferon regulatory factor 8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- rs1192543113
- gnomAD rs1192543113
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.82
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available