S34G (p.Ser34Gly) variant of IRF8 (Interferon regulatory factor 8)
S34G (p.Ser34Gly) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S34G (p.Ser34Gly) variant details
- p.Ser34Gly
- gnomAD 16-85903115-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.37
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available