L8Q (p.Leu8Gln) variant of ATM (Serine-protein kinase ATM)
L8Q (p.Leu8Gln) 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.
L8Q (p.Leu8Gln) variant details
- p.Leu8Gln
- cosmic curated COSV53786
- Ensembl rs1555053885
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available