P39R (p.Pro39Arg) variant of IRF8 (Interferon regulatory factor 8)
P39R (p.Pro39Arg) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
P39R (p.Pro39Arg) variant details
- p.Pro39Arg
- gnomAD 16-85903131-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.97
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available