D66Y (p.Asp66Tyr) variant of COL2A1 (Collagen alpha-1(II) chain)
D66Y (p.Asp66Tyr) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
D66Y (p.Asp66Tyr) variant details
- p.Asp66Tyr
- TOPMed rs976006680
- gnomAD rs976006680
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available