L30* (p.Leu30Ter) variant of KIF11 (Kinesin-like protein KIF11)
L30* (p.Leu30Ter) in KIF11 (Kinesin-like protein KIF11) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
L30* (p.Leu30Ter) variant details
- p.Leu30Ter
- rs2492475559
- ClinGen CA377587695
- ClinVar RCV002789990
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available