I43I (p.Ile43Ile) variant of TBP (TATA-box-binding protein)
I43I (p.Ile43Ile) in TBP (TATA-box-binding protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I43I (p.Ile43Ile) variant details
- p.Ile43Ile
- gnomAD 6-170561865-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 9.24
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available