Q31* (p.Gln31Ter) variant of IRF7 (Interferon regulatory factor 7)
Q31* (p.Gln31Ter) in IRF7 (Interferon regulatory factor 7) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Q31* (p.Gln31Ter) variant details
- p.Gln31Ter
- rs2493949409
- ClinGen CA378984642
- ClinVar RCV003065829
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 35.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.2e-05)
- Structural context available