Q67R (p.Gln67Arg) variant of TBP (TATA-box-binding protein)
Q67R (p.Gln67Arg) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q67R (p.Gln67Arg) variant details
- p.Gln67Arg
- rs762804204
- ClinGen CA4108280
- ClinVar RCV002697998
- ExAC rs762804204
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.21
- CADD 13.70
- PolyPhen-2 0.78
- SIFT 0.57
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)