G704S (p.Gly704Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G704S (p.Gly704Ser) 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 not provided; Osteogenesis imperfecta type I; Osteogenesis imperfecta type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G704S (p.Gly704Ser) variant details
- p.Gly704Ser
- rs67368147
- ClinGen CA291544042
- ClinVar RCV001002442
- ClinVar RCV001385147
- Pathogenic
- not provided; Osteogenesis imperfecta type I; Osteogenesis imperfecta type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 1.00
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Osteogenesis imperfecta type I; Osteogenesis imper)
- EBI: Pathogenic (in OI3)
- UniProt: Pathogenic (in OI3)
- Population evidence available
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)