E52K (p.Glu52Lys) variant of SMC3 (Q9UQE7)
E52K (p.Glu52Lys) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
E52K (p.Glu52Lys) variant details
- p.Glu52Lys
- TOPMed rs1214949585
- Missense
- Variant Prioritization Score for Impact Estimate 0.989
- ESM-1b 1.00
- AlphaMissense 0.98
- Structural context available