E2* (p.Glu2Ter) variant of CYP2B6 (Cytochrome P450 2B6)
E2* (p.Glu2Ter) in CYP2B6 (Cytochrome P450 2B6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E2* (p.Glu2Ter) variant details
- p.Glu2Ter
- gnomAD 19-40991309-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available