E26K (p.Glu26Lys) variant of ATM (Serine-protein kinase ATM)
E26K (p.Glu26Lys) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- TOPMed rs730881361
- gnomAD rs730881361
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available