I51V (p.Ile51Val) variant of TBP (TATA-box-binding protein)
I51V (p.Ile51Val) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I51V (p.Ile51Val) variant details
- p.Ile51Val
- ExAC rs773389193
- TOPMed rs773389193
- gnomAD rs773389193
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.05
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available