E41G (p.Glu41Gly) variant of BAX (Apoptosis regulator BAX)
E41G (p.Glu41Gly) in BAX (Apoptosis regulator BAX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E41G (p.Glu41Gly) variant details
- p.Glu41Gly
- rs398122840
- gnomAD 19-48955713-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 28.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. (PMID 9020077)