E60K (p.Glu60Lys) variant of SETBP1 (SET-binding protein)
E60K (p.Glu60Lys) 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 0.45 / 1. The record also includes structural context.
E60K (p.Glu60Lys) variant details
- p.Glu60Lys
- rs2069115983
- ClinGen CA402481594
- ClinVar RCV003722277
- TOPMed rs2069115983
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- AlphaMissense 0.62
- MetaLR 0.41
- MetaSVM -0.19
- PolyPhen-2 1.00
- SIFT 0.06
- MutPred 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available