E28K (p.Glu28Lys) variant of ATM (Serine-protein kinase ATM)
E28K (p.Glu28Lys) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified; Ataxia-telangiectasia syndrome. The record also includes structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- cosmic curated COSV10879
- Uncertain significance
- not specified; Ataxia-telangiectasia syndrome
- Missense
- ClinVar: Uncertain significance (not specified; Ataxia-telangiectasia syndrome)
- UniProt: Uncertain significance
- Structural context available