S50V (p.Ser50Val) variant of TBP (TATA-box-binding protein)
S50V (p.Ser50Val) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S50V (p.Ser50Val) variant details
- p.Ser50Val
- gnomAD 6-170561881-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 27.80
- Population evidence available
- Structural context available
- Literature evidence available