R236T (p.Arg236Thr) variant of EED (Polycomb protein EED)
R236T (p.Arg236Thr) 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 0.42 / 1. The record also includes published literature.
R236T (p.Arg236Thr) variant details
- p.Arg236Thr
- rs1131692176
- ClinGen CA382004532
- NCI-TCGA Cosmic COSV5455
- ClinVar RCV000495685
- Pathogenic
- Cohen-Gibson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- AlphaMissense 1.00
- MetaLR 0.21
- MetaSVM -0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (Cohen-Gibson syndrome)
- EBI: Pathogenic (in COGIS)
- UniProt: Pathogenic (in COGIS)
- Cited in: Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. (PMID 28229514)
- Cited in: EED-Related Overgrowth. (PMID 30973693)