C11F (p.Cys11Phe) variant of ATM (Serine-protein kinase ATM)
C11F (p.Cys11Phe) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
C11F (p.Cys11Phe) variant details
- p.Cys11Phe
- TOPMed rs1364898025
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available