G221S (p.Gly221Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G221S (p.Gly221Ser) 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 type I; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G221S (p.Gly221Ser) variant details
- p.Gly221Ser
- rs72667037
- ClinGen CA400224750
- ClinVar RCV000822915
- ClinVar RCV002363171
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta type I; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- ESM-1b 1.00
- AlphaMissense 0.87
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta type I; not provided; Cardiovascular phe)
- EBI: Pathogenic (in OI1)
- UniProt: Pathogenic (in OI1)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)