A54S (p.Ala54Ser) variant of BAX (Apoptosis regulator BAX)
A54S (p.Ala54Ser) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A54S (p.Ala54Ser) variant details
- p.Ala54Ser
- 1000Genomes rs200153051
- ExAC rs200153051
- TOPMed rs200153051
- gnomAD rs200153051
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.01
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available