Q29E (p.Gln29Glu) variant of CHEK2 (O96017)
Q29E (p.Gln29Glu) in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q29E (p.Gln29Glu) variant details
- p.Gln29Glu
- ExAC rs761494650
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available