S25G (p.Ser25Gly) variant of EED (Polycomb protein EED)
S25G (p.Ser25Gly) in EED (Polycomb protein EED) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cohen-Gibson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S25G (p.Ser25Gly) variant details
- p.Ser25Gly
- rs1459981515
- ClinGen CA382061154
- ClinVar RCV001197531
- TOPMed rs1459981515
- Uncertain significance
- Cohen-Gibson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.23
- CADD 24.30
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Cohen-Gibson syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: EED-Related Overgrowth. (PMID 30973693)