E27* (p.Glu27Ter) variant of PML (Protein PML)
E27* (p.Glu27Ter) in PML (Protein PML) 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.
E27* (p.Glu27Ter) variant details
- p.Glu27Ter
- gnomAD 15-73994891-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available