Q184* (p.Gln184Ter) variant of BIN1 (O00499)
Q184* (p.Gln184Ter) 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 0.88 / 1. The record also includes population frequency data and structural context.
Q184* (p.Gln184Ter) variant details
- p.Gln184Ter
- NCI-TCGA Cosmic COSV9938
- ExAC rs777940512
- TOPMed rs777940512
- gnomAD rs777940512
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 43.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available