Q34E (p.Gln34Glu) variant of CHEK2 (O96017)
Q34E (p.Gln34Glu) in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q34E (p.Gln34Glu) variant details
- p.Gln34Glu
- gnomAD rs1231012263
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available