E56D (p.Glu56Asp) variant of SETBP1 (SET-binding protein)
E56D (p.Glu56Asp) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E56D (p.Glu56Asp) variant details
- p.Glu56Asp
- gnomAD rs2060097582
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 22.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available