S17* (p.Ser17Ter) variant of SETBP1 (SET-binding protein)
S17* (p.Ser17Ter) in SETBP1 (SET-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
S17* (p.Ser17Ter) variant details
- p.Ser17Ter
- gnomAD 18-44701396-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.839
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available