R19I (p.Arg19Ile) variant of ATM (Serine-protein kinase ATM)
R19I (p.Arg19Ile) 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 Hereditary cancer-predisposing syndrome. The record also includes structural context.
R19I (p.Arg19Ile) variant details
- p.Arg19Ile
- Ensembl rs1064793029
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available