G227R (p.Gly227Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
G227R (p.Gly227Arg) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
G227R (p.Gly227Arg) variant details
- p.Gly227Arg
- rs1567763007
- ClinGen CA400224628
- ClinVar RCV000697699
- Ensembl rs1567763007
- Likely pathogenic
- not provided; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- MutPred 0.99
- ClinVar: Likely pathogenic (not provided; Osteogenesis imperfecta type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)