Q62H (p.Gln62His) variant of TBP (TATA-box-binding protein)
Q62H (p.Gln62His) in TBP (TATA-box-binding protein) is a missense change. Clinical records from ClinVar 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 0.16 / 1. The record also includes population frequency data and structural context.
Q62H (p.Gln62His) variant details
- p.Gln62His
- 1000Genomes rs559386285
- gnomAD rs559386285
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.14
- CADD 17.20
- PolyPhen-2 0.96
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available