A11T (p.Ala11Thr) variant of TBP (TATA-box-binding protein)
A11T (p.Ala11Thr) in TBP (TATA-box-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- ExAC rs764142412
- TOPMed rs764142412
- gnomAD rs764142412
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.18
- CADD 23.60
- PolyPhen-2 0.97
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available