E16R (p.Glu16Arg) variant of SETBP1 (SET-binding protein)
E16R (p.Glu16Arg) in SETBP1 (SET-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and published literature.
E16R (p.Glu16Arg) variant details
- p.Glu16Arg
- rs1231303606
- gnomAD 18-44701385-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.723
- CADD 28.30
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Literature evidence available