H129R (p.His129Arg) variant of EZH2 (Q15910)
H129R (p.His129Arg) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
H129R (p.His129Arg) variant details
- p.His129Arg
- rs2129477011
- ClinGen CA369721845
- cosmic curated COSV57460
- ClinVar RCV001775264
- Conflicting interpretations
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.74
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Weaver syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)