Q12Q (p.Gln12Gln) variant of IRF8 (Interferon regulatory factor 8)
Q12Q (p.Gln12Gln) in IRF8 (Interferon regulatory factor 8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Q12Q (p.Gln12Gln) variant details
- p.Gln12Gln
- gnomAD 16-85903051-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 11.60
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available