D192N (p.Asp192Asn) variant of EZH2 (Q15910)
D192N (p.Asp192Asn) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D192N (p.Asp192Asn) variant details
- p.Asp192Asn
- rs778968366
- ClinGen CA4548099
- cosmic curated COSV57451
- ClinVar RCV001216815
- Likely benign
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.18
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Likely benign (Weaver syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)