G821S (p.Gly821Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G821S (p.Gly821Ser) 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 not provided; Osteogenesis imperfecta type I; Osteogenesis imperfecta with norma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G821S (p.Gly821Ser) variant details
- p.Gly821Ser
- rs67693970
- ClinGen CA291543310
- ClinVar RCV000490757
- ClinVar RCV000548232
- Pathogenic
- not provided; Osteogenesis imperfecta type I; Osteogenesis imperfecta with norma
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- ESM-1b 1.00
- AlphaMissense 0.86
- ClinVar: Pathogenic (not provided; Osteogenesis imperfecta type I; Osteogenesis imper)
- EBI: Pathogenic (in OI3, OI1 and OI4)
- UniProt: Pathogenic (in OI3, OI1 and OI4)
- Structural context available
- Cited in: Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. (PMID 16705691)
- Cited in: Osteogenesis imperfecta: clinical, biochemical and molecular findings. (PMID 16879195)