E46* (p.Glu46Ter) variant of PDCD1 (Programmed cell death protein 1)
E46* (p.Glu46Ter) in PDCD1 (Programmed cell death protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E46* (p.Glu46Ter) variant details
- p.Glu46Ter
- TOPMed rs1429395114
- gnomAD rs1429395114
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 36.00
- Population evidence available
- Structural context available