R47* (p.Arg47Ter) variant of KIF11 (Kinesin-like protein KIF11)
R47* (p.Arg47Ter) 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 variant effect predictions and structural context.
R47* (p.Arg47Ter) variant details
- p.Arg47Ter
- rs1227480400
- ClinGen CA377587806
- ClinVar RCV000578602
- ClinVar RCV001255733
- Pathogenic
- Stop Gained
- MutPred 0.35
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available