E54E (p.Glu54Glu) variant of TBP (TATA-box-binding protein)
E54E (p.Glu54Glu) in TBP (TATA-box-binding protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E54E (p.Glu54Glu) variant details
- p.Glu54Glu
- rs1178590548
- gnomAD 6-170561898-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 1.89
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available