E41R (p.Glu41Arg) variant of BAX (Apoptosis regulator BAX)
E41R (p.Glu41Arg) in BAX (Apoptosis regulator BAX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E41R (p.Glu41Arg) variant details
- p.Glu41Arg
- rs398122840
- gnomAD 19-48955713-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 23.70
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. (PMID 9020077)