R57S (p.Arg57Ser) variant of TBP (TATA-box-binding protein)
R57S (p.Arg57Ser) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R57S (p.Arg57Ser) variant details
- p.Arg57Ser
- gnomAD 6-170561901-A-ACA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available