R4G (p.Arg4Gly) variant of IRF8 (Interferon regulatory factor 8)
R4G (p.Arg4Gly) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- gnomAD 16-85903025-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.49
- CADD 22.60
- PolyPhen-2 0.50
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available