G262R (p.Gly262Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
G262R (p.Gly262Arg) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Osteogenesis imperfecta with normal sclerae, dominant form; Ehlers-Danlos syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G262R (p.Gly262Arg) variant details
- p.Gly262Arg
- rs1554395970
- ClinGen CA368220513
- ClinVar RCV002231024
- ClinVar RCV002244998
- Likely pathogenic
- Osteogenesis imperfecta with normal sclerae, dominant form; Ehlers-Danlos syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- MutPred 0.99
- ClinVar: Likely pathogenic (Osteogenesis imperfecta with normal sclerae, dominant form; Ehle)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)