R8Q (p.Arg8Gln) variant of IRF4 (Interferon regulatory factor 4)
R8Q (p.Arg8Gln) in IRF4 (Interferon regulatory factor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- rs139884486
- ClinGen CA3612605
- ClinVar RCV001945320
- ClinVar RCV004043440
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.29
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available