R34Q (p.Arg34Gln) variant of BAX (Apoptosis regulator BAX)
R34Q (p.Arg34Gln) 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.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- ExAC rs760586942
- TOPMed rs760586942
- gnomAD rs760586942
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.08
- CADD 26.50
- PolyPhen-2 0.65
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available