S84L (p.Ser84Leu) variant of EZH2 (Q15910)
S84L (p.Ser84Leu) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S84L (p.Ser84Leu) variant details
- p.Ser84Leu
- rs1182369323
- ClinGen CA369707333
- cosmic curated COSV57459
- ClinVar RCV001967091
- Likely benign
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.37
- CADD 24.50
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Likely benign (Weaver syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.7e-05)
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)