D188N (p.Asp188Asn) variant of EZH2 (Q15910)
D188N (p.Asp188Asn) 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 0.62 / 1. The record also includes published literature and structural context.
D188N (p.Asp188Asn) variant details
- p.Asp188Asn
- rs1585021829
- ClinGen CA369720381
- cosmic curated COSV57451
- ClinVar RCV000810542
- Uncertain significance
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- AlphaMissense 0.15
- MetaLR 0.79
- MetaSVM 0.70
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.23
- ClinVar: Uncertain significance (Weaver syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)