G362S (p.Gly362Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G362S (p.Gly362Ser) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G362S (p.Gly362Ser) variant details
- p.Gly362Ser
- rs1907516553
- ClinGen CA400220084
- ClinVar RCV001196899
- ClinVar RCV003163499
- Likely pathogenic
- Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfe
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- ESM-1b 1.00
- AlphaMissense 0.82
- ClinVar: Likely pathogenic (Osteogenesis imperfecta with normal sclerae, dominant form; Oste)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)