G12E (p.Gly12Glu) variant of BAX (Apoptosis regulator BAX)
G12E (p.Gly12Glu) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- gnomAD rs1353084211
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.13
- CADD 25.30
- PolyPhen-2 0.20
- SIFT 0.43
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available