G203D (p.Gly203Asp) variant of COL1A1 (Collagen alpha-1(I) chain)
G203D (p.Gly203Asp) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Infantile cortical hyperostosis; Osteogenesis imperfecta type I; Osteogenesis im. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
G203D (p.Gly203Asp) variant details
- p.Gly203Asp
- rs72667031
- ClinGen CA400225247
- ClinVar RCV002248998
- ClinVar RCV003631230
- Pathogenic/Likely pathogenic
- Infantile cortical hyperostosis; Osteogenesis imperfecta type I; Osteogenesis im
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic/Likely pathogenic (Infantile cortical hyperostosis; Osteogenesis imperfecta type I;)
- EBI: Pathogenic (in OI3 and OIEDS1)
- UniProt: Pathogenic (in OI3 and OIEDS1)
- Structural context available
- Cited in: Caffey Disease. (PMID 22855962)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)