E5* (p.Glu5Ter) variant of EED (Polycomb protein EED)
E5* (p.Glu5Ter) in EED (Polycomb protein EED) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
E5* (p.Glu5Ter) variant details
- p.Glu5Ter
- gnomAD 11-86245242-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.886
- CADD 45.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available