I56V (p.Ile56Val) variant of IRF8 (Interferon regulatory factor 8)
I56V (p.Ile56Val) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
I56V (p.Ile56Val) variant details
- p.Ile56Val
- ExAC rs775453097
- TOPMed rs775453097
- gnomAD rs775453097
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.75
- CADD 22.80
- PolyPhen-2 0.37
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available