Q74H (p.Gln74His) variant of TBP (TATA-box-binding protein)
Q74H (p.Gln74His) in TBP (TATA-box-binding protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
Q74H (p.Gln74His) variant details
- p.Gln74His
- gnomAD rs62430309
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.10
- CADD 10.90
- PolyPhen-2 0.22
- SIFT 0.14
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available