G224S (p.Gly224Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G224S (p.Gly224Ser) 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 type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G224S (p.Gly224Ser) variant details
- p.Gly224Ser
- rs72667038
- ClinGen CA400224680
- ClinVar RCV003136508
- ClinVar RCV003517449
- Pathogenic
- Osteogenesis imperfecta type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- ESM-1b 1.00
- AlphaMissense 0.85
- MutPred 0.99
- ClinVar: Pathogenic (Osteogenesis imperfecta type I; not provided)
- EBI: Pathogenic (in OI1)
- UniProt: Pathogenic (in OI1)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)