A46V (p.Ala46Val) variant of BAX (Apoptosis regulator BAX)
A46V (p.Ala46Val) 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.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- gnomAD rs1166445718
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.04
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available