E6D (p.Glu6Asp) variant of BAX (Apoptosis regulator BAX)
E6D (p.Glu6Asp) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E6D (p.Glu6Asp) variant details
- p.Glu6Asp
- gnomAD 19-48954946-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -1.03
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available