Q54* (p.Gln54Ter) variant of BIN1 (O00499)
Q54* (p.Gln54Ter) in BIN1 (O00499) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
Q54* (p.Gln54Ter) variant details
- p.Gln54Ter
- cosmic curated COSV52121
- ExAC rs765035434
- TOPMed rs765035434
- gnomAD rs765035434
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available