S350F (p.Ser350Phe) variant of SUZ12 (Polycomb protein SUZ12)
S350F (p.Ser350Phe) in SUZ12 (Polycomb protein SUZ12) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Imagawa-Matsumoto syndrome. The record also includes structural context.
S350F (p.Ser350Phe) variant details
- p.Ser350Phe
- rs2508661900
- ClinGen CA399028707
- ClinVar RCV003234950
- Likely pathogenic
- Imagawa-Matsumoto syndrome
- Missense
- ClinVar: Likely pathogenic (Imagawa-Matsumoto syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available