G5E (p.Gly5Glu) variant of BAX (Apoptosis regulator BAX)
G5E (p.Gly5Glu) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G5E (p.Gly5Glu) variant details
- p.Gly5Glu
- gnomAD 19-48954942-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.05
- MetaLR 0.10
- MetaSVM -1.06
- CADD 24.80
- PolyPhen-2 0.64
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available