Q7* (p.Gln7Ter) variant of SH2B3 (SH2B adapter protein 3)
Q7* (p.Gln7Ter) in SH2B3 (SH2B adapter protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
Q7* (p.Gln7Ter) variant details
- p.Gln7Ter
- Ensembl rs1871217761
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.812
- CADD 34.00
- Population evidence available
- Structural context available