A46T (p.Ala46Thr) variant of BAX (Apoptosis regulator BAX)
A46T (p.Ala46Thr) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- gnomAD rs1324504320
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.04
- CADD 21.20
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available