I18T (p.Ile18Thr) variant of IRF8 (Interferon regulatory factor 8)
I18T (p.Ile18Thr) in IRF8 (Interferon regulatory factor 8) 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 0.75 / 1. The record also includes population frequency data and structural context.
I18T (p.Ile18Thr) variant details
- p.Ile18Thr
- gnomAD rs1173576430
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.89
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available