I27F (p.Ile27Phe) variant of TBP (TATA-box-binding protein)
I27F (p.Ile27Phe) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
I27F (p.Ile27Phe) variant details
- p.Ile27Phe
- ESP rs150312586
- ExAC rs150312586
- TOPMed rs150312586
- gnomAD rs150312586
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.12
- CADD 22.90
- Most common in the East Asian population (allele frequency 2.5e-05)