G857C (p.Gly857Cys) variant of COL1A1 (Collagen alpha-1(I) chain)
G857C (p.Gly857Cys) 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; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G857C (p.Gly857Cys) variant details
- p.Gly857Cys
- rs72653141
- ClinGen CA291543270
- ClinVar RCV001260270
- ClinVar RCV002471036
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta; Osteogenesis imperfecta type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)