A43G (p.Ala43Gly) variant of IRF8 (Interferon regulatory factor 8)
A43G (p.Ala43Gly) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A43G (p.Ala43Gly) variant details
- p.Ala43Gly
- gnomAD 16-85903143-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.82
- CADD 26.10
- PolyPhen-2 0.90
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available