Y34F (p.Tyr34Phe) variant of TBP (TATA-box-binding protein)
Y34F (p.Tyr34Phe) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Y34F (p.Tyr34Phe) variant details
- p.Tyr34Phe
- TOPMed rs1394976596
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.21
- CADD 23.50
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available