K29* (p.Lys29Ter) variant of CRB1 (Protein crumbs homolog 1)
K29* (p.Lys29Ter) in CRB1 (Protein crumbs homolog 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
K29* (p.Lys29Ter) variant details
- p.Lys29Ter
- rs2465024035
- ClinGen CA2740090433
- ClinVar RCV003889668
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available