G280C (p.Gly280Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
G280C (p.Gly280Cys) 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 III; See cases; Ehlers-Danlos syndrome, classic typ. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G280C (p.Gly280Cys) variant details
- p.Gly280Cys
- rs72656387
- ClinGen CA368220623
- ClinVar RCV003097730
- ClinVar RCV004584526
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta type III; See cases; Ehlers-Danlos syndrome, classic typ
- Missense
- Variant Prioritization Score for Impact Estimate 0.991
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta type III; See cases; Ehlers-Danlos syndr)
- 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)