W8* (p.Trp8Ter) variant of IL2RB (P14784)
W8* (p.Trp8Ter) in IL2RB (P14784) 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 0.45 / 1. The record also includes population frequency data.
W8* (p.Trp8Ter) variant details
- p.Trp8Ter
- gnomAD rs1351067152
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 33.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available