A76S (p.Ala76Ser) variant of IRF8 (Interferon regulatory factor 8)
A76S (p.Ala76Ser) in IRF8 (Interferon regulatory factor 8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A76S (p.Ala76Ser) variant details
- p.Ala76Ser
- rs371252337
- gnomAD 16-85909037-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 29.70
- Population evidence available
- Structural context available
- Literature evidence available