I2702K (p.Ile2702Lys) variant of ATM (Serine-protein kinase ATM)
I2702K (p.Ile2702Lys) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ataxia-telangiectasia syndrome. The record also includes structural context.
I2702K (p.Ile2702Lys) variant details
- p.Ile2702Lys
- TOPMed rs876659735
- gnomAD rs876659735
- Likely pathogenic
- Ataxia-telangiectasia syndrome
- Missense
- ClinVar: Likely pathogenic (Ataxia-telangiectasia syndrome)
- EBI: Likely pathogenic (in AT)
- UniProt: Likely pathogenic (in AT)
- Structural context available