G39V (p.Gly39Val) variant of BAX (Apoptosis regulator BAX)
G39V (p.Gly39Val) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G39V (p.Gly39Val) variant details
- p.Gly39Val
- 1000Genomes rs147630961
- ESP rs147630961
- ExAC rs147630961
- TOPMed rs147630961
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.12
- CADD 24.70
- PolyPhen-2 0.12
- SIFT 0.05
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available