K25N (p.Lys25Asn) variant of ATM (Serine-protein kinase ATM)
K25N (p.Lys25Asn) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ataxia-telangiectasia syndrome. The record also includes structural context.
K25N (p.Lys25Asn) variant details
- p.Lys25Asn
- TOPMed rs1591446716
- Uncertain significance
- Ataxia-telangiectasia syndrome
- Missense
- ClinVar: Uncertain significance (Ataxia-telangiectasia syndrome)
- EBI: Benign
- UniProt: Benign
- Structural context available