P37S (p.Pro37Ser) variant of SETBP1 (SET-binding protein)
P37S (p.Pro37Ser) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- rs985954731
- ClinGen CA402481454
- ClinVar RCV002014932
- TOPMed rs985954731
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- AlphaMissense 0.06
- MetaLR 0.09
- MetaSVM -1.03
- PolyPhen-2 0.02
- SIFT 0.04
- MutPred 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available