C30* (p.Cys30Ter) variant of SH2B3 (SH2B adapter protein 3)
C30* (p.Cys30Ter) in SH2B3 (SH2B adapter protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
C30* (p.Cys30Ter) variant details
- p.Cys30Ter
- gnomAD 12-111418232-CTG-
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 28.30
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available