Q87* (p.Gln87Ter) variant of IL12B (Interleukin-12 subunit beta)
Q87* (p.Gln87Ter) in IL12B (Interleukin-12 subunit beta) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q87* (p.Gln87Ter) variant details
- p.Gln87Ter
- rs1562113567
- ClinGen CA362035708
- ClinVar RCV000692446
- TOPMed rs1562113567
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available