E4* (p.Glu4Ter) variant of CHEK2 (O96017)
E4* (p.Glu4Ter) in CHEK2 (O96017) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E4* (p.Glu4Ter) variant details
- p.Glu4Ter
- Ensembl rs1555932959
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available