P17H (p.Pro17His) variant of TBP (TATA-box-binding protein)
P17H (p.Pro17His) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P17H (p.Pro17His) variant details
- p.Pro17His
- gnomAD 6-170557050-G-GCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 24.90
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available