G1079S (p.Gly1079Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G1079S (p.Gly1079Ser) 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 COL1A1-related disorder; not provided; Osteogenesis imperfecta with normal scler. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G1079S (p.Gly1079Ser) variant details
- p.Gly1079Ser
- rs72654802
- ClinGen CA281089
- ClinVar RCV000018863
- ClinVar RCV001596935
- Pathogenic
- COL1A1-related disorder; not provided; Osteogenesis imperfecta with normal scler
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.80
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (COL1A1-related disorder; not provided; Osteogenesis imperfecta w)
- EBI: Pathogenic (in OI1 and OI2)
- UniProt: Pathogenic (in OI1 and OI2)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901… (PMID 1634225)
- Cited in: [A new mutation in COL1A1 gene in a family with osteogenesis imperfecta]. (PMID 16638323)