D185H (p.Asp185His) variant of EZH2 (Q15910)
D185H (p.Asp185His) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D185H (p.Asp185His) variant details
- p.Asp185His
- rs2302427
- ClinGen CA159195
- cosmic curated COSV57449
- ClinVar RCV000120897
- Benign
- not specified; not provided; Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.45
- CADD 24.80
- PolyPhen-2 0.60
- SIFT 0.01
- ClinVar: Benign (not specified; not provided; Weaver syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:DAI population (allele frequency 0.39)
- Structural context available
- Cited in: Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. (PMID 26694085)
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)