S7del (p.Ser7del) variant of EED (Polycomb protein EED)
S7del (p.Ser7del) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S7del (p.Ser7del) variant details
- gnomAD 11-86245246-TGTC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 20.20
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available