L33* (p.Leu33Ter) variant of EED (Polycomb protein EED)
L33* (p.Leu33Ter) in EED (Polycomb protein EED) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and published literature.
L33* (p.Leu33Ter) variant details
- p.Leu33Ter
- rs1342200275
- gnomAD 11-86245168-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 21.50
- Population evidence available
- Literature evidence available