C55Y (p.Cys55Tyr) variant of COL2A1 (Collagen alpha-1(II) chain)
C55Y (p.Cys55Tyr) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
C55Y (p.Cys55Tyr) variant details
- p.Cys55Tyr
- rs2540187702
- ClinGen CA384526424
- ClinVar RCV002296531
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available