T46A (p.Thr46Ala) variant of TBP (TATA-box-binding protein)
T46A (p.Thr46Ala) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T46A (p.Thr46Ala) variant details
- p.Thr46Ala
- gnomAD 6-170561872-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.09
- CADD 19.40
- PolyPhen-2 0.03
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available