E99* (p.Glu99Ter) variant of CHM (P24386)
E99* (p.Glu99Ter) in CHM (P24386) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E99* (p.Glu99Ter) variant details
- p.Glu99Ter
- rs2147706381
- ClinGen CA413787804
- ClinVar RCV002037672
- Ensembl rs2147706381
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available