R83C (p.Arg83Cys) variant of IRF8 (Interferon regulatory factor 8)
R83C (p.Arg83Cys) 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.
R83C (p.Arg83Cys) variant details
- p.Arg83Cys
- gnomAD 16-85909062-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.97
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available