R302G (p.Arg302Gly) variant of EED (Polycomb protein EED)
R302G (p.Arg302Gly) in EED (Polycomb protein EED) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cohen-Gibson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and published literature.
R302G (p.Arg302Gly) variant details
- p.Arg302Gly
- rs1131692175
- ClinGen CA382005025
- NCI-TCGA Cosmic COSV5455
- cosmic curated COSV54553
- Pathogenic
- Cohen-Gibson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.51
- CADD 28.10
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Pathogenic (Cohen-Gibson syndrome)
- EBI: Pathogenic (in COGIS)
- UniProt: Pathogenic (in COGIS)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Cited in: Novel EED mutation in patient with Weaver syndrome. (PMID 27868325)
- Cited in: EED-Related Overgrowth. (PMID 30973693)