E58Q (p.Glu58Gln) variant of SETBP1 (SET-binding protein)
E58Q (p.Glu58Gln) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E58Q (p.Glu58Gln) variant details
- p.Glu58Gln
- gnomAD 18-44701518-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- MetaLR 0.48
- MetaSVM -0.06
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available