H258Y (p.His258Tyr) variant of EED (Polycomb protein EED)
H258Y (p.His258Tyr) 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 0.45 / 1. The record also includes published literature.
H258Y (p.His258Tyr) variant details
- p.His258Tyr
- rs1131692174
- ClinGen CA382004703
- ClinVar RCV000494950
- UniProt VAR 079257
- Pathogenic
- Cohen-Gibson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- AlphaMissense 1.00
- MetaLR 0.19
- MetaSVM -0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic (Cohen-Gibson syndrome)
- EBI: Pathogenic (in COGIS)
- UniProt: Pathogenic (in COGIS)
- Cited in: EED-associated overgrowth in a second male patient. (PMID 27193220)
- Cited in: EED-Related Overgrowth. (PMID 30973693)