Q55* (p.Gln55Ter) variant of TBP (TATA-box-binding protein)
Q55* (p.Gln55Ter) in TBP (TATA-box-binding protein) 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 0.74 / 1. The record also includes population frequency data and structural context.
Q55* (p.Gln55Ter) variant details
- p.Gln55Ter
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.737
- CADD 34.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available