Q32* (p.Gln32Ter) variant of IL12RB1 (P42701)
Q32* (p.Gln32Ter) in IL12RB1 (P42701) 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 0.57 / 1. The record also includes population frequency data and published literature.
Q32* (p.Gln32Ter) variant details
- p.Gln32Ter
- rs121434492
- ClinGen CA119239
- ClinVar RCV000008497
- ClinVar RCV000725837
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.572
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Cited in: Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. (PMID 9603733)