P8L (p.Pro8Leu) variant of TBP (TATA-box-binding protein)
P8L (p.Pro8Leu) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- TOPMed rs1009942407
- gnomAD rs1009942407
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.04
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available