Y153C (p.Tyr153Cys) variant of EZH2 (Q15910)
Y153C (p.Tyr153Cys) in EZH2 (Q15910) is a missense change. The available record places it in the context of Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y153C (p.Tyr153Cys) variant details
- p.Tyr153Cys
- rs797044844
- ClinGen CA347376
- cosmic curated COSV57449
- ClinVar RCV000193211
- not provided
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.93
- CADD 26.90
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: not provided (Weaver syndrome)
- UniProt: Not provided (in WVS)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)