E61* (p.Glu61Ter) variant of IL12RB1 (P42701)
E61* (p.Glu61Ter) in IL12RB1 (P42701) 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 0.49 / 1. The record also includes population frequency data.
E61* (p.Glu61Ter) variant details
- p.Glu61Ter
- cosmic curated COSV10044
- 1000Genomes rs117720235
- ExAC rs117720235
- TOPMed rs117720235
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)