G19V (p.Gly19Val) variant of TBP (TATA-box-binding protein)
G19V (p.Gly19Val) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G19V (p.Gly19Val) variant details
- p.Gly19Val
- gnomAD rs1390001535
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.19
- CADD 24.10
- PolyPhen-2 0.24
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available