C18* (p.Cys18Ter) variant of CHEK2 (O96017)
C18* (p.Cys18Ter) in CHEK2 (O96017) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
C18* (p.Cys18Ter) variant details
- p.Cys18Ter
- gnomAD rs1057523962
- Likely benign
- Stop Gained
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available