I55M (p.Ile55Met) variant of EZH2 (Q15910)
I55M (p.Ile55Met) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
I55M (p.Ile55Met) variant details
- p.Ile55Met
- rs199645805
- ClinGen CA4548196
- cosmic curated COSV57447
- ClinVar RCV000520518
- Conflicting interpretations
- not provided; Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.35
- CADD 22.80
- PolyPhen-2 0.61
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (not provided; Weaver syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0023)
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)