A43S (p.Ala43Ser) variant of IRF8 (Interferon regulatory factor 8)
A43S (p.Ala43Ser) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A43S (p.Ala43Ser) variant details
- p.Ala43Ser
- gnomAD 16-85903142-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.83
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available