E58D (p.Glu58Asp) variant of SETBP1 (SET-binding protein)
E58D (p.Glu58Asp) 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, published literature, and structural context.
E58D (p.Glu58Asp) variant details
- p.Glu58Asp
- gnomAD 18-44701520-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- MetaLR 0.42
- MetaSVM -0.07
- CADD 24.00
- PolyPhen-2 0.97
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available