Q33* (p.Gln33Ter) variant of IL2RB (P14784)
Q33* (p.Gln33Ter) in IL2RB (P14784) 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 0.32 / 1. The record also includes population frequency data.
Q33* (p.Gln33Ter) variant details
- p.Gln33Ter
- rs2517845076
- ClinGen CA411429657
- ClinVar RCV003670293
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.324
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)