Q14L (p.Gln14Leu) variant of ATM (Serine-protein kinase ATM)
Q14L (p.Gln14Leu) 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.
Q14L (p.Gln14Leu) variant details
- p.Gln14Leu
- ExAC rs749776879
- gnomAD rs749776879
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available