G5W (p.Gly5Trp) variant of BAX (Apoptosis regulator BAX)
G5W (p.Gly5Trp) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G5W (p.Gly5Trp) variant details
- p.Gly5Trp
- gnomAD 19-48954941-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.16
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available