W114* (p.Trp114Ter) variant of IL12RB1 (P42701)
W114* (p.Trp114Ter) in IL12RB1 (P42701) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data.
W114* (p.Trp114Ter) variant details
- p.Trp114Ter
- ESP rs372512479
- ExAC rs372512479
- TOPMed rs372512479
- gnomAD rs372512479
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.843
- CADD 37.00
- Most common in the REMAINING population (allele frequency 0.00048)