M662T (p.Met662Thr) variant of EZH2 (Q15910)
M662T (p.Met662Thr) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
M662T (p.Met662Thr) variant details
- p.Met662Thr
- rs1584875099
- ClinGen CA369712596
- NCI-TCGA Cosmic COSV5745
- cosmic curated COSV57451
- Likely pathogenic
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.98
- MetaLR 0.36
- MetaSVM -0.51
- PolyPhen-2 0.85
- SIFT 0.03
- EVE 0.60
- ClinVar: Likely pathogenic (Weaver syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)