K47R (p.Lys47Arg) variant of IRF4 (Interferon regulatory factor 4)
K47R (p.Lys47Arg) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
K47R (p.Lys47Arg) variant details
- p.Lys47Arg
- TOPMed rs1431984073
- gnomAD rs1431984073
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.54
- CADD 23.70
- PolyPhen-2 0.15
- SIFT 0.13
- MutPred 0.48
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available