I68M (p.Ile68Met) variant of COL2A1 (Collagen alpha-1(II) chain)
I68M (p.Ile68Met) 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.
I68M (p.Ile68Met) variant details
- p.Ile68Met
- rs2136637135
- ClinGen CA384526197
- ClinVar RCV003574259
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available