K29I (p.Lys29Ile) variant of ATM (Serine-protein kinase ATM)
K29I (p.Lys29Ile) 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.
K29I (p.Lys29Ile) variant details
- p.Lys29Ile
- ESP rs147009251
- ExAC rs147009251
- gnomAD rs147009251
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available