E16* (p.Glu16Ter) variant of SETBP1 (SET-binding protein)
E16* (p.Glu16Ter) 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 and published literature.
E16* (p.Glu16Ter) variant details
- p.Glu16Ter
- gnomAD 18-44701392-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.836
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Literature evidence available