G292R (p.Gly292Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
G292R (p.Gly292Arg) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G292R (p.Gly292Arg) variant details
- p.Gly292Arg
- rs906553840
- ClinGen CA368220686
- ClinVar RCV000523423
- ClinVar RCV001858003
- Pathogenic
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.995
- MutPred 0.99
- ClinVar: Pathogenic (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- 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)