D74E (p.Asp74Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
D74E (p.Asp74Glu) 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.
D74E (p.Asp74Glu) variant details
- p.Asp74Glu
- rs527800991
- ClinGen CA384526103
- ClinVar RCV002937290
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available