E2E (p.Glu2Glu) variant of SETBP1 (SET-binding protein)
E2E (p.Glu2Glu) in SETBP1 (SET-binding protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E2E (p.Glu2Glu) variant details
- p.Glu2Glu
- gnomAD 18-44701352-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 9.80
- Population evidence available
- Structural context available
- Literature evidence available