R53* (p.Arg53Ter) variant of KIF11 (Kinesin-like protein KIF11)
R53* (p.Arg53Ter) in KIF11 (Kinesin-like protein KIF11) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R53* (p.Arg53Ter) variant details
- p.Arg53Ter
- rs2135900558
- ClinGen CA377587845
- ClinVar RCV001382096
- ClinVar RCV003314007
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available