Q20E (p.Gln20Glu) variant of CHEK2 (O96017)
Q20E (p.Gln20Glu) in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q20E (p.Gln20Glu) variant details
- p.Gln20Glu
- 1000Genomes rs536907995
- ExAC rs536907995
- gnomAD rs536907995
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available