Q57* (p.Gln57Ter) variant of BUB1B (O60566)
Q57* (p.Gln57Ter) in BUB1B (O60566) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q57* (p.Gln57Ter) variant details
- p.Gln57Ter
- rs2140878554
- ClinGen CA391677323
- ClinVar RCV001881383
- Ensembl rs2140878554
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available