D53Y (p.Asp53Tyr) variant of IRF8 (Interferon regulatory factor 8)
D53Y (p.Asp53Tyr) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
D53Y (p.Asp53Tyr) variant details
- p.Asp53Tyr
- gnomAD 16-85903172-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available