E32del (p.Glu32del) variant of IRF8 (Interferon regulatory factor 8)
E32del (p.Glu32del) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E32del (p.Glu32del) variant details
- rs1567875661
- gnomAD 16-85903105-TGAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 21.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available