Q32E (p.Gln32Glu) variant of BAX (Apoptosis regulator BAX)
Q32E (p.Gln32Glu) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q32E (p.Gln32Glu) variant details
- p.Gln32Glu
- gnomAD 19-48955694-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.10
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available