R302S (p.Arg302Ser) variant of EED (Polycomb protein EED)
R302S (p.Arg302Ser) in EED (Polycomb protein EED) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cohen-Gibson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature.
R302S (p.Arg302Ser) variant details
- p.Arg302Ser
- rs1131692173
- ClinGen CA382005030
- ClinVar RCV000495739
- UniProt VAR 078317
- Likely pathogenic
- Cohen-Gibson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- AlphaMissense 1.00
- MetaLR 0.46
- MetaSVM -0.19
- PolyPhen-2 0.75
- SIFT 0.10
- EVE 0.58
- ClinVar: Likely pathogenic (Cohen-Gibson syndrome)
- EBI: Pathogenic (in COGIS)
- UniProt: Pathogenic (in COGIS)
- Cited in: A novel mutation in EED associated with overgrowth. (PMID 25787343)
- Cited in: Corrigendum: A novel mutation in EED associated with overgrowth. (PMID 28119537)