R15* (p.Arg15Ter) variant of KIF5A (Kinesin heavy chain isoform 5A)
R15* (p.Arg15Ter) in KIF5A (Kinesin heavy chain isoform 5A) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R15* (p.Arg15Ter) variant details
- p.Arg15Ter
- rs2140150119
- ClinGen CA385495845
- ClinVar RCV002040379
- Ensembl rs2140150119
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available