E6G (p.Glu6Gly) variant of BAX (Apoptosis regulator BAX)
E6G (p.Glu6Gly) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E6G (p.Glu6Gly) variant details
- p.Glu6Gly
- gnomAD 19-48954945-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.05
- CADD 34.00
- PolyPhen-2 0.02
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available