E233* (p.Glu233Ter) variant of EYS (Protein eyes shut homolog)
E233* (p.Glu233Ter) in EYS (Protein eyes shut homolog) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
E233* (p.Glu233Ter) variant details
- p.Glu233Ter
- rs866997713
- ClinGen CA364789340
- NCI-TCGA Cosmic COSV6098
- ClinVar RCV001952790
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic