G40E (p.Gly40Glu) variant of BAX (Apoptosis regulator BAX)
G40E (p.Gly40Glu) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G40E (p.Gly40Glu) variant details
- p.Gly40Glu
- gnomAD rs1212791807
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.09
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available