A54A (p.Ala54Ala) variant of IRF8 (Interferon regulatory factor 8)
A54A (p.Ala54Ala) in IRF8 (Interferon regulatory factor 8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A54A (p.Ala54Ala) variant details
- p.Ala54Ala
- rs1392635609
- gnomAD 16-85903177-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 8.65
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available