M366T (p.Met366Thr) variant of EED (Polycomb protein EED)
M366T (p.Met366Thr) 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 0.43 / 1. The record also includes published literature.
M366T (p.Met366Thr) variant details
- p.Met366Thr
- rs1565706229
- ClinGen CA382007711
- ClinVar RCV000708568
- Ensembl rs1565706229
- Likely pathogenic
- Cohen-Gibson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.99
- MetaLR 0.32
- MetaSVM -0.53
- PolyPhen-2 0.90
- SIFT 0.01
- EVE 0.40
- ClinVar: Likely pathogenic (Cohen-Gibson syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: EED-Related Overgrowth. (PMID 30973693)