G203R (p.Gly203Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
G203R (p.Gly203Arg) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Osteogenesis imperfecta type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
G203R (p.Gly203Arg) variant details
- p.Gly203Arg
- rs72667030
- ClinGen CA291548110
- ClinVar RCV001888079
- ClinVar RCV003136207
- Pathogenic
- Osteogenesis imperfecta type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic (Osteogenesis imperfecta type I; not provided)
- EBI: Pathogenic (in OI3 and OIEDS1)
- UniProt: Pathogenic (in OI3 and OIEDS1)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)