E39* (p.Glu39Ter) variant of CYP11B1 (P15538)
E39* (p.Glu39Ter) in CYP11B1 (P15538) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E39* (p.Glu39Ter) variant details
- p.Glu39Ter
- gnomAD 8-142875371-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.167
- CADD 3.59
- Population evidence available
- Structural context available
- Literature evidence available