G719S (p.Gly719Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G719S (p.Gly719Ser) 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, perinatal lethal; Infantile cortical hyperostosis; Comb. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
G719S (p.Gly719Ser) variant details
- p.Gly719Ser
- rs72651645
- ClinGen CA291543986
- ClinVar RCV000490715
- ClinVar RCV001245339
- Pathogenic
- Osteogenesis imperfecta, perinatal lethal; Infantile cortical hyperostosis; Comb
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- ESM-1b 1.00
- AlphaMissense 0.68
- ClinVar: Pathogenic (Osteogenesis imperfecta, perinatal lethal; Infantile cortical hy)
- EBI: Pathogenic (in OI3)
- UniProt: Pathogenic (in OI3)
- Structural context available
- Cited in: An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen… (PMID 7691343)
- Cited in: Caffey Disease. (PMID 22855962)