P57T (p.Pro57Thr) variant of SETBP1 (SET-binding protein)
P57T (p.Pro57Thr) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
P57T (p.Pro57Thr) variant details
- p.Pro57Thr
- gnomAD 18-44701515-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- MetaLR 0.36
- MetaSVM -0.37
- CADD 22.90
- PolyPhen-2 0.52
- SIFT 0.28
- Population evidence available
- Literature evidence available