G6R (p.Gly6Arg) variant of IRF4 (Interferon regulatory factor 4)
G6R (p.Gly6Arg) in IRF4 (Interferon regulatory factor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- rs1296646377
- ClinGen CA362546242
- ClinVar RCV003821169
- gnomAD rs1296646377
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.35
- CADD 9.79
- PolyPhen-2 0.33
- SIFT 0.13
- MutPred 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00019)