G83A (p.Gly83Ala) variant of COL2A1 (Collagen alpha-1(II) chain)
G83A (p.Gly83Ala) 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.
G83A (p.Gly83Ala) variant details
- p.Gly83Ala
- rs2540187429
- ClinGen CA384525967
- ClinVar RCV002300453
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available