D183E (p.Asp183Glu) variant of EZH2 (Q15910)
D183E (p.Asp183Glu) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D183E (p.Asp183Glu) variant details
- p.Asp183Glu
- rs2537146396
- cosmic curated COSV57465
- ClinGen CA369720485
- ClinVar RCV003613098
- Uncertain significance
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.36
- CADD 17.00
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (Weaver syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)