S50P (p.Ser50Pro) variant of TBP (TATA-box-binding protein)
S50P (p.Ser50Pro) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S50P (p.Ser50Pro) variant details
- p.Ser50Pro
- gnomAD 6-170561884-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.15
- CADD 25.30
- PolyPhen-2 0.69
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available