E52A (p.Glu52Ala) variant of SMC3 (Q9UQE7)
E52A (p.Glu52Ala) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes structural context.
E52A (p.Glu52Ala) variant details
- p.Glu52Ala
- Ensembl rs879158286
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- ESM-1b 0.00
- AlphaMissense 0.89
- Structural context available