G1076S (p.Gly1076Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G1076S (p.Gly1076Ser) 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 Osteogenesis imperfecta, perinatal lethal; Infantile cortical hyperostosis; Comb. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G1076S (p.Gly1076Ser) variant details
- p.Gly1076Ser
- rs67394386
- ClinGen CA291543018
- ClinVar RCV000490696
- ClinVar RCV000596247
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta, perinatal lethal; Infantile cortical hyperostosis; Comb
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.98
- MetaSVM 1.06
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta, perinatal lethal; Infantile cortical hy)
- EBI: Pathogenic (in OI3 and OI4)
- UniProt: Pathogenic (in OI3 and OI4)
- Structural context available
- Cited in: Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. (PMID 27519266)
- Cited in: Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with… (PMID 9101304)