A46A (p.Ala46Ala) variant of BAX (Apoptosis regulator BAX)
A46A (p.Ala46Ala) in BAX (Apoptosis regulator BAX) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A46A (p.Ala46Ala) variant details
- p.Ala46Ala
- rs1568604478
- gnomAD 19-48955738-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 14.40
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available