H17Y (p.His17Tyr) variant of ATM (Serine-protein kinase ATM)
H17Y (p.His17Tyr) 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.
H17Y (p.His17Tyr) variant details
- p.His17Tyr
- TOPMed rs876658161
- gnomAD rs876658161
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available