Q132* (p.Gln132Ter) variant of BIN1 (O00499)
Q132* (p.Gln132Ter) in BIN1 (O00499) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
Q132* (p.Gln132Ter) variant details
- p.Gln132Ter
- rs1385213884
- NCI-TCGA Cosmic COSV5211
- cosmic curated COSV52116
- gnomAD rs1385213884
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.871
- CADD 45.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available