G3* (p.Gly3Ter) variant of BAX (Apoptosis regulator BAX)
G3* (p.Gly3Ter) in BAX (Apoptosis regulator BAX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G3* (p.Gly3Ter) variant details
- p.Gly3Ter
- gnomAD 19-48954931-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.34
- CADD 32.00
- PolyPhen-2 0.84
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available