p.Ser28 Gly29del variant of EED (Polycomb protein EED)
p.Ser28 Gly29del in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and published literature.
p.Ser28 Gly29del variant details
- gnomAD 11-86245125-GGCGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.699
- CADD 20.50
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Literature evidence available