S10* (p.Ser10Ter) variant of SH2B3 (SH2B adapter protein 3)
S10* (p.Ser10Ter) in SH2B3 (SH2B adapter protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S10* (p.Ser10Ter) variant details
- p.Ser10Ter
- TOPMed rs1484288251
- gnomAD rs1484288251
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.499
- CADD 31.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available