Q3R (p.Gln3Arg) variant of TBP (TATA-box-binding protein)
Q3R (p.Gln3Arg) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q3R (p.Gln3Arg) variant details
- p.Gln3Arg
- gnomAD 6-170557037-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.21
- CADD 23.90
- PolyPhen-2 0.89
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available