R83H (p.Arg83His) variant of IRF8 (Interferon regulatory factor 8)
R83H (p.Arg83His) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
R83H (p.Arg83His) variant details
- p.Arg83His
- ExAC rs763333317
- gnomAD rs763333317
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- REVEL 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available