G47E (p.Gly47Glu) variant of SETBP1 (SET-binding protein)
G47E (p.Gly47Glu) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G47E (p.Gly47Glu) variant details
- p.Gly47Glu
- gnomAD 18-44701486-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- MetaLR 0.28
- MetaSVM -0.44
- CADD 23.00
- PolyPhen-2 0.32
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available