C2R (p.Cys2Arg) variant of IRF8 (Interferon regulatory factor 8)
C2R (p.Cys2Arg) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
C2R (p.Cys2Arg) variant details
- p.Cys2Arg
- gnomAD 16-85903019-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.61
- CADD 27.90
- PolyPhen-2 0.72
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available