F603L (p.Phe603Leu) variant of SUZ12 (Polycomb protein SUZ12)
F603L (p.Phe603Leu) in SUZ12 (Polycomb protein SUZ12) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Imagawa-Matsumoto syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
F603L (p.Phe603Leu) variant details
- p.Phe603Leu
- rs1598192095
- ClinGen CA399035402
- ClinVar RCV001003510
- UniProt VAR 083819
- Pathogenic
- Imagawa-Matsumoto syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- AlphaMissense 1.00
- MetaLR 0.35
- MetaSVM -0.29
- PolyPhen-2 0.91
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Imagawa-Matsumoto syndrome)
- EBI: Pathogenic (in IMMAS)
- UniProt: Pathogenic (in IMMAS)
- Structural context available
- Cited in: Rare SUZ12 variants commonly cause an overgrowth phenotype. (PMID 31736240)
- Cited in: Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. (PMID 28229514)