S50F (p.Ser50Phe) variant of TBP (TATA-box-binding protein)
S50F (p.Ser50Phe) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S50F (p.Ser50Phe) variant details
- p.Ser50Phe
- gnomAD 6-170561878-AGTCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.654
- CADD 28.90
- Population evidence available
- Structural context available
- Literature evidence available