T46S (p.Thr46Ser) variant of TBP (TATA-box-binding protein)
T46S (p.Thr46Ser) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T46S (p.Thr46Ser) variant details
- p.Thr46Ser
- gnomAD 6-170561873-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.07
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.68
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available