E41Q (p.Glu41Gln) variant of BAX (Apoptosis regulator BAX)
E41Q (p.Glu41Gln) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E41Q (p.Glu41Gln) variant details
- p.Glu41Gln
- ExAC rs760328116
- TOPMed rs760328116
- gnomAD rs760328116
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.08
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available