R8L (p.Arg8Leu) variant of IRF4 (Interferon regulatory factor 4)
R8L (p.Arg8Leu) 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 0.44 / 1. The record also includes population frequency data and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- rs139884486
- ClinGen CA3612606
- ClinVar RCV001889492
- 1000Genomes rs139884486
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.35
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.21
- MutPred 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available