A54G (p.Ala54Gly) variant of BAX (Apoptosis regulator BAX)
A54G (p.Ala54Gly) 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.
A54G (p.Ala54Gly) variant details
- p.Ala54Gly
- ExAC rs753272713
- TOPMed rs753272713
- gnomAD rs753272713
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.02
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available