E51Q (p.Glu51Gln) variant of IRF8 (Interferon regulatory factor 8)
E51Q (p.Glu51Gln) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E51Q (p.Glu51Gln) variant details
- p.Glu51Gln
- gnomAD 16-85903166-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.78
- CADD 26.40
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available