L56* (p.Leu56Ter) variant of CHM (P24386)
L56* (p.Leu56Ter) in CHM (P24386) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
L56* (p.Leu56Ter) variant details
- p.Leu56Ter
- rs2147712442
- ClinGen CA413788283
- ClinVar RCV001994466
- Ensembl rs2147712442
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available