I43V (p.Ile43Val) variant of TBP (TATA-box-binding protein)
I43V (p.Ile43Val) 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 and structural context.
I43V (p.Ile43Val) variant details
- p.Ile43Val
- Ensembl rs1779143555
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.14
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available