R11* (p.Arg11Ter) variant of IRF8 (Interferon regulatory factor 8)
R11* (p.Arg11Ter) in IRF8 (Interferon regulatory factor 8) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R11* (p.Arg11Ter) variant details
- p.Arg11Ter
- NCI-TCGA Cosmic COSV5190
- cosmic curated COSV51900
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.756
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available