A54E (p.Ala54Glu) variant of BAX (Apoptosis regulator BAX)
A54E (p.Ala54Glu) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A54E (p.Ala54Glu) variant details
- p.Ala54Glu
- ExAC rs753272713
- TOPMed rs753272713
- gnomAD rs753272713
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.03
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available