E70G (p.Glu70Gly) variant of COL2A1 (Collagen alpha-1(II) chain)
E70G (p.Glu70Gly) 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.
E70G (p.Glu70Gly) variant details
- p.Glu70Gly
- rs2540187583
- ClinGen CA384526173
- ClinVar RCV003706747
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available