W26* (p.Trp26Ter) variant of SH2B3 (SH2B adapter protein 3)
W26* (p.Trp26Ter) in SH2B3 (SH2B adapter protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
W26* (p.Trp26Ter) variant details
- p.Trp26Ter
- TOPMed rs1189359287
- gnomAD rs1189359287
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.826
- CADD 37.00
- Population evidence available
- Structural context available