A54P (p.Ala54Pro) variant of BAX (Apoptosis regulator BAX)
A54P (p.Ala54Pro) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A54P (p.Ala54Pro) variant details
- p.Ala54Pro
- 1000Genomes rs200153051
- ExAC rs200153051
- TOPMed rs200153051
- gnomAD rs200153051
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.02
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available