F28L (p.Phe28Leu) variant of TBP (TATA-box-binding protein)
F28L (p.Phe28Leu) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and published literature.
F28L (p.Phe28Leu) variant details
- p.Phe28Leu
- gnomAD 6-170561820-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.49
- CADD 18.90
- PolyPhen-2 0.91
- SIFT 0.19
- Population evidence available
- Literature evidence available