Y34M (p.Tyr34Met) variant of TBP (TATA-box-binding protein)
Y34M (p.Tyr34Met) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Y34M (p.Tyr34Met) variant details
- p.Tyr34Met
- rs749938009
- gnomAD 6-170561834-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 21.20
- Population evidence available
- Structural context available
- Literature evidence available