D2E (p.Asp2Glu) variant of TBP (TATA-box-binding protein)
D2E (p.Asp2Glu) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D2E (p.Asp2Glu) variant details
- p.Asp2Glu
- ExAC rs751702127
- gnomAD rs751702127
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.20
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.37
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available