R57K (p.Arg57Lys) variant of TBP (TATA-box-binding protein)
R57K (p.Arg57Lys) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R57K (p.Arg57Lys) variant details
- p.Arg57Lys
- gnomAD 6-170561906-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.17
- CADD 17.30
- PolyPhen-2 0.74
- SIFT 0.92
- Population evidence available
- Structural context available
- Literature evidence available