E41* (p.Glu41Ter) variant of BAX (Apoptosis regulator BAX)
E41* (p.Glu41Ter) in BAX (Apoptosis regulator BAX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E41* (p.Glu41Ter) variant details
- p.Glu41Ter
- cosmic curated COSV10735
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 36.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available