G3R (p.Gly3Arg) variant of BAX (Apoptosis regulator BAX)
G3R (p.Gly3Arg) in BAX (Apoptosis regulator BAX) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G3R (p.Gly3Arg) variant details
- p.Gly3Arg
- ExAC rs553879570
- TOPMed rs553879570
- gnomAD rs553879570
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.13
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available