Q87* (p.Gln87Ter) variant of BIN1 (O00499)
Q87* (p.Gln87Ter) in BIN1 (O00499) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Q87* (p.Gln87Ter) variant details
- p.Gln87Ter
- rs2105075896
- ClinGen CA348369486
- ClinVar RCV002015089
- Ensembl rs2105075896
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.871
- CADD 41.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)