R78H (p.Arg78His) variant of EZH2 (Q15910)
R78H (p.Arg78His) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R78H (p.Arg78His) variant details
- p.Arg78His
- rs1218303603
- ClinGen CA369708103
- NCI-TCGA Cosmic COSV5745
- cosmic curated COSV57452
- Benign
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.47
- CADD 24.20
- PolyPhen-2 0.62
- SIFT 0.13
- ClinVar: Benign (Weaver syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)