E56E (p.Glu56Glu) variant of SETBP1 (SET-binding protein)
E56E (p.Glu56Glu) in SETBP1 (SET-binding protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E56E (p.Glu56Glu) variant details
- p.Glu56Glu
- gnomAD 18-44701514-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 9.39
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available