Q132* (p.Gln132Ter) variant of IL12RB1 (P42701)
Q132* (p.Gln132Ter) in IL12RB1 (P42701) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
Q132* (p.Gln132Ter) variant details
- p.Gln132Ter
- rs1284613041
- ClinGen CA404789695
- cosmic curated COSV10044
- ClinVar RCV003146200
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 35.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 0.00012)