I51L (p.Ile51Leu) variant of TBP (TATA-box-binding protein)
I51L (p.Ile51Leu) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
I51L (p.Ile51Leu) variant details
- p.Ile51Leu
- ExAC rs773389193
- TOPMed rs773389193
- gnomAD rs773389193
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.06
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available