L93R (p.Leu93Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
L93R (p.Leu93Arg) 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 COL2A1-related disorder. The record also includes structural context.
L93R (p.Leu93Arg) variant details
- p.Leu93Arg
- rs2540187306
- ClinGen CA384525795
- ClinVar RCV004536703
- Uncertain significance
- COL2A1-related disorder
- Missense
- ClinVar: Uncertain significance (COL2A1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available