E28* (p.Glu28Ter) variant of SH2B3 (SH2B adapter protein 3)
E28* (p.Glu28Ter) 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, published literature, and structural context.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- gnomAD 12-111418227-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.826
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available