L49R (p.Leu49Arg) variant of TBP (TATA-box-binding protein)
L49R (p.Leu49Arg) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L49R (p.Leu49Arg) variant details
- p.Leu49Arg
- gnomAD 6-170561882-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.35
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available