E31* (p.Glu31Ter) variant of SH2B3 (SH2B adapter protein 3)
E31* (p.Glu31Ter) in SH2B3 (SH2B adapter protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
E31* (p.Glu31Ter) variant details
- p.Glu31Ter
- gnomAD 12-111418236-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.819
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available