A43T (p.Ala43Thr) variant of IRF8 (Interferon regulatory factor 8)
A43T (p.Ala43Thr) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- gnomAD 16-85903142-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.90
- CADD 28.70
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available