A54V (p.Ala54Val) variant of BAX (Apoptosis regulator BAX)
A54V (p.Ala54Val) 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.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- ExAC rs753272713
- TOPMed rs753272713
- gnomAD rs753272713
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.02
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available