G32D (p.Gly32Asp) variant of SETBP1 (SET-binding protein)
G32D (p.Gly32Asp) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G32D (p.Gly32Asp) variant details
- p.Gly32Asp
- gnomAD 18-44701441-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- MetaLR 0.33
- MetaSVM -0.46
- CADD 21.90
- PolyPhen-2 0.32
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available