G257R (p.Gly257Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
G257R (p.Gly257Arg) 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, perinatal lethal; Infantile cortical hyperostosis; Comb. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
G257R (p.Gly257Arg) variant details
- p.Gly257Arg
- rs72645321
- ClinGen CA400223887
- ClinVar RCV002007244
- UniProt VAR 063297
- Pathogenic
- Osteogenesis imperfecta, perinatal lethal; Infantile cortical hyperostosis; Comb
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- REVEL 1.00
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Osteogenesis imperfecta type I)
- EBI: Pathogenic (in OI4)
- UniProt: Pathogenic (in OI4)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. (PMID 16705691)
- Cited in: Osteogenesis imperfecta: clinical, biochemical and molecular findings. (PMID 16879195)