E2D (p.Glu2Asp) variant of SETBP1 (SET-binding protein)
E2D (p.Glu2Asp) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- gnomAD 18-44701352-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 24.20
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available