F673L (p.Phe673Leu) variant of EZH2 (Q15910)
F673L (p.Phe673Leu) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Weaver syndrome. The record also includes variant effect predictions and structural context.
F673L (p.Phe673Leu) variant details
- p.Phe673Leu
- cosmic curated COSV10610
- Pathogenic
- Weaver syndrome
- Missense
- MetaLR 0.41
- MetaSVM -0.20
- SIFT 0.00
- ClinVar: Pathogenic (Weaver syndrome)
- UniProt: Pathogenic
- Structural context available