G5R (p.Gly5Arg) variant of BAX (Apoptosis regulator BAX)
G5R (p.Gly5Arg) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- TOPMed rs1600099752
- gnomAD rs1600099752
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.05
- CADD 31.00
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available