Q21* (p.Gln21Ter) variant of EED (Polycomb protein EED)
Q21* (p.Gln21Ter) in EED (Polycomb protein EED) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
Q21* (p.Gln21Ter) variant details
- p.Gln21Ter
- gnomAD 11-86245203-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 20.50
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available