K103* (p.Lys103Ter) variant of WDR45 (Q9Y484)
K103* (p.Lys103Ter) in WDR45 (Q9Y484) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K103* (p.Lys103Ter) variant details
- p.Lys103Ter
- rs1557084310
- ClinGen CA412946786
- ClinVar RCV000579140
- Ensembl rs1557084310
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available