E59K (p.Glu59Lys) variant of SETBP1 (SET-binding protein)
E59K (p.Glu59Lys) 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 0.53 / 1. The record also includes structural context.
E59K (p.Glu59Lys) variant details
- p.Glu59Lys
- rs2069115926
- ClinGen CA402481586
- ClinVar RCV003691608
- TOPMed rs2069115926
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- AlphaMissense 0.70
- MetaLR 0.57
- MetaSVM 0.08
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available