A42E (p.Ala42Glu) variant of BAX (Apoptosis regulator BAX)
A42E (p.Ala42Glu) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A42E (p.Ala42Glu) variant details
- p.Ala42Glu
- gnomAD 19-48955725-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.02
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available