Q14E (p.Gln14Glu) variant of ATM (Serine-protein kinase ATM)
Q14E (p.Gln14Glu) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q14E (p.Gln14Glu) variant details
- p.Gln14Glu
- Ensembl rs2135005331
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available