G231D (p.Gly231Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G231D (p.Gly231Asp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Type 2 collagenopathy. The record also includes published literature and structural context.
G231D (p.Gly231Asp) variant details
- p.Gly231Asp
- rs2540174508
- ClinVar RCV004595386
- Likely pathogenic
- Type 2 collagenopathy
- Missense
- ClinVar: Likely pathogenic (Type 2 collagenopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)