G5D (p.Gly5Asp) variant of IRF4 (Interferon regulatory factor 4)
G5D (p.Gly5Asp) 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 0.35 / 1. The record also includes population frequency data and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- rs564941413
- ClinGen CA133329000
- ClinVar RCV003665517
- Ensembl rs564941413
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.24
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.18
- MutPred 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00019)
- Structural context available