G7V (p.Gly7Val) variant of IRF8 (Interferon regulatory factor 8)
G7V (p.Gly7Val) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G7V (p.Gly7Val) variant details
- p.Gly7Val
- gnomAD 16-85903035-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.74
- CADD 26.20
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available