L82* (p.Leu82Ter) variant of IRF8 (Interferon regulatory factor 8)
L82* (p.Leu82Ter) in IRF8 (Interferon regulatory factor 8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
L82* (p.Leu82Ter) variant details
- p.Leu82Ter
- TOPMed rs1333675827
- gnomAD rs1333675827
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 40.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available