S2* (p.Ser2Ter) variant of EED (Polycomb protein EED)
S2* (p.Ser2Ter) in EED (Polycomb protein EED) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S2* (p.Ser2Ter) variant details
- p.Ser2Ter
- gnomAD 11-86245060-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.718
- CADD 21.20
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available