Q12* (p.Gln12Ter) variant of SETBP1 (SET-binding protein)
Q12* (p.Gln12Ter) in SETBP1 (SET-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and published literature.
Q12* (p.Gln12Ter) variant details
- p.Gln12Ter
- gnomAD 18-44701380-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.85
- CADD 35.00
- Population evidence available
- Literature evidence available