G487R (p.Gly487Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
G487R (p.Gly487Arg) 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; Osteogenesis imperfecta, perinatal lethal; Ost. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G487R (p.Gly487Arg) variant details
- p.Gly487Arg
- rs1791952936
- ClinGen CA368221885
- ClinVar RCV002241275
- Ensembl rs1791952936
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta type III; Osteogenesis imperfecta, perinatal lethal; Ost
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta type III; Osteogenesis imperfecta, perin)
- 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)