R46H (p.Arg46His) variant of EZH2 (Q15910)
R46H (p.Arg46His) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R46H (p.Arg46His) variant details
- p.Arg46His
- rs1333628386
- cosmic curated COSV57460
- ClinVar RCV004586216
- ClinVar RCV006613377
- Uncertain significance
- Weaver syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.74
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.24
- ClinVar: Uncertain significance (Weaver syndrome; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)