G3E (p.Gly3Glu) variant of BAX (Apoptosis regulator BAX)
G3E (p.Gly3Glu) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G3E (p.Gly3Glu) variant details
- p.Gly3Glu
- gnomAD 19-48954936-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.13
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available