K4* (p.Lys4Ter) variant of EYS (Protein eyes shut homolog)
K4* (p.Lys4Ter) in EYS (Protein eyes shut homolog) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
K4* (p.Lys4Ter) variant details
- p.Lys4Ter
- rs1766221897
- ClinGen CA364790845
- ClinVar RCV003046591
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic