Q29K (p.Gln29Lys) variant of CHEK2 (O96017)
Q29K (p.Gln29Lys) in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q29K (p.Gln29Lys) variant details
- p.Gln29Lys
- ExAC rs761494650
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available