R37Q (p.Arg37Gln) variant of IRF8 (Interferon regulatory factor 8)
R37Q (p.Arg37Gln) 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 0.87 / 1. The record also includes population frequency data and structural context.
R37Q (p.Arg37Gln) variant details
- p.Arg37Gln
- rs1250694242
- NCI-TCGA Cosmic COSV5189
- cosmic curated COSV51897
- TOPMed rs1250694242
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.90
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available