G200S (p.Gly200Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G200S (p.Gly200Ser) 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 III; Ehlers-Danlos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G200S (p.Gly200Ser) variant details
- p.Gly200Ser
- rs2509246983
- ClinGen CA400225327
- ClinVar RCV003631375
- ClinVar RCV005030145
- Pathogenic/Likely pathogenic
- Infantile cortical hyperostosis; Osteogenesis imperfecta type III; Ehlers-Danlos
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- ESM-1b 1.00
- AlphaMissense 0.81
- ClinVar: Pathogenic/Likely pathogenic (Infantile cortical hyperostosis; Osteogenesis imperfecta type II)
- EBI: Pathogenic (in OI1)
- UniProt: Pathogenic (in OI1)
- Structural context available
- Cited in: Caffey Disease. (PMID 22855962)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)