T39I (p.Thr39Ile) variant of TBP (TATA-box-binding protein)
T39I (p.Thr39Ile) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
T39I (p.Thr39Ile) variant details
- p.Thr39Ile
- gnomAD 6-170561852-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.47
- CADD 23.10
- PolyPhen-2 0.28
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available