Q58L (p.Gln58Leu) variant of TBP (TATA-box-binding protein)
Q58L (p.Gln58Leu) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q58L (p.Gln58Leu) variant details
- p.Gln58Leu
- ExAC rs764966099
- TOPMed rs764966099
- gnomAD rs764966099
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.04
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available