G884S (p.Gly884Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G884S (p.Gly884Ser) 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 COL1A1-related disorder; not provided; Osteogenesis imperfecta, perinatal lethal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G884S (p.Gly884Ser) variant details
- p.Gly884Ser
- rs1567755602
- ClinGen CA400207006
- ClinVar RCV000755940
- ClinVar RCV004547947
- Pathogenic/Likely pathogenic
- COL1A1-related disorder; not provided; Osteogenesis imperfecta, perinatal lethal
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 0.98
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (COL1A1-related disorder; not provided; Osteogenesis imperfecta,)
- EBI: Pathogenic (in OI2 and OI3)
- UniProt: Pathogenic (in OI2 and OI3)
- Structural context available
- Cited in: Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype… (PMID 18996919)
- Cited in: Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief… (PMID 10627137)