G1181S (p.Gly1181Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G1181S (p.Gly1181Ser) 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 with normal sclerae, dominant form; Osteoporosis; Ehlers. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G1181S (p.Gly1181Ser) variant details
- p.Gly1181Ser
- rs72656330
- ClinGen CA257869
- ClinVar RCV000018854
- ClinVar RCV001811189
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta with normal sclerae, dominant form; Osteoporosis; Ehlers
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 1.05
- CADD 25.50
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta with normal sclerae, dominant form; Oste)
- EBI: Pathogenic (in OI2)
- UniProt: Pathogenic (in OI2)
- Population evidence available
- Structural context available
- Cited in: Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. (PMID 2037280)
- Cited in: Homozygous osteogenesis imperfecta unlinked to collagen I genes. (PMID 2894346)