E69D (p.Glu69Asp) variant of IRF8 (Interferon regulatory factor 8)
E69D (p.Glu69Asp) in IRF8 (Interferon regulatory factor 8) is a missense change. 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.
E69D (p.Glu69Asp) variant details
- p.Glu69Asp
- ExAC rs769848729
- gnomAD rs769848729
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.54
- CADD 23.10
- PolyPhen-2 0.43
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available