G39E (p.Gly39Glu) variant of BAX (Apoptosis regulator BAX)
G39E (p.Gly39Glu) 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.
G39E (p.Gly39Glu) variant details
- p.Gly39Glu
- 1000Genomes rs147630961
- ESP rs147630961
- ExAC rs147630961
- TOPMed rs147630961
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.15
- CADD 23.60
- PolyPhen-2 0.12
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available