W43* (p.Trp43Ter) variant of MMUT (P22033)
W43* (p.Trp43Ter) in MMUT (P22033) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W43* (p.Trp43Ter) variant details
- p.Trp43Ter
- rs2481350851
- ClinGen CA364405659
- ClinVar RCV002711771
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available