G286A (p.Gly286Ala) variant of COL1A2 (Collagen alpha-2(I) chain)
G286A (p.Gly286Ala) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; Osteoge. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G286A (p.Gly286Ala) variant details
- p.Gly286Ala
- rs67210352
- ClinGen CA162919692
- ClinVar RCV002225133
- ClinVar RCV002242821
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; Osteoge
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- MutPred 0.98
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)