G19C (p.Gly19Cys) variant of TBP (TATA-box-binding protein)
G19C (p.Gly19Cys) 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, published literature, and structural context.
G19C (p.Gly19Cys) variant details
- p.Gly19Cys
- gnomAD 6-170561791-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.14
- CADD 28.00
- PolyPhen-2 0.55
- SIFT 0.02
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available