E8Q (p.Glu8Gln) variant of CHEK2 (O96017)
E8Q (p.Glu8Gln) in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E8Q (p.Glu8Gln) variant details
- p.Glu8Gln
- Ensembl rs2146156469
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available