E35* (p.Glu35Ter) variant of POLD1 (P28340)
E35* (p.Glu35Ter) in POLD1 (P28340) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
E35* (p.Glu35Ter) variant details
- p.Glu35Ter
- gnomAD 19-50398954-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.908
- CADD 48.00
- Population evidence available
- Structural context available
- Literature evidence available