Q72H (p.Gln72His) variant of TBP (TATA-box-binding protein)
Q72H (p.Gln72His) 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 record also includes structural context.
Q72H (p.Gln72His) variant details
- p.Gln72His
- Ensembl rs55736770
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Structural context available