G35V (p.Gly35Val) variant of TBP (TATA-box-binding protein)
G35V (p.Gly35Val) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
G35V (p.Gly35Val) variant details
- p.Gly35Val
- ExAC rs749788903
- gnomAD rs749788903
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.72
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available