T53M (p.Thr53Met) variant of EZH2 (Q15910)
T53M (p.Thr53Met) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
T53M (p.Thr53Met) variant details
- p.Thr53Met
- rs768812143
- ClinGen CA369708274
- cosmic curated COSV57452
- ClinVar RCV000523469
- Conflicting interpretations
- not provided; Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.50
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (not provided; Weaver syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)