L47L (p.Leu47Leu) variant of BAX (Apoptosis regulator BAX)
L47L (p.Leu47Leu) in BAX (Apoptosis regulator BAX) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L47L (p.Leu47Leu) variant details
- p.Leu47Leu
- rs1368635629
- gnomAD 19-48955739-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 9.59
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available