D2E (p.Asp2Glu) variant of BAX (Apoptosis regulator BAX)
D2E (p.Asp2Glu) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D2E (p.Asp2Glu) variant details
- p.Asp2Glu
- gnomAD 19-48954934-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.10
- CADD 29.30
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available