K93E (p.Lys93Glu) variant of SMC3 (Q9UQE7)
K93E (p.Lys93Glu) in SMC3 (Q9UQE7) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
K93E (p.Lys93Glu) variant details
- p.Lys93Glu
- rs869312672
- Likely pathogenic
- Missense
- EBI: ['likely-pathogenic']
- UniProt: Likely-pathogenic
- Structural context available