R37Q (p.Arg37Gln) variant of BAX (Apoptosis regulator BAX)
R37Q (p.Arg37Gln) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R37Q (p.Arg37Gln) variant details
- p.Arg37Gln
- cosmic curated COSV10609
- ExAC rs751678403
- TOPMed rs751678403
- gnomAD rs751678403
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.07
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available