G561S (p.Gly561Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G561S (p.Gly561Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; COL2A1-related disorder. The record also includes structural context.
G561S (p.Gly561Ser) variant details
- p.Gly561Ser
- rs2540146311
- ClinGen CA384551238
- ClinVar RCV003062499
- Pathogenic/Likely pathogenic
- not provided; COL2A1-related disorder
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; COL2A1-related disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available