G272C (p.Gly272Cys) variant of COL1A1 (Collagen alpha-1(I) chain)
G272C (p.Gly272Cys) 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 Infantile cortical hyperostosis; Osteogenesis imperfecta type I. 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.
G272C (p.Gly272Cys) variant details
- p.Gly272Cys
- rs72645331
- ClinGen CA281082
- ClinVar RCV000018826
- ClinVar RCV002247357
- Pathogenic
- Infantile cortical hyperostosis; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Infantile cortical hyperostosis; Osteogenesis imperfecta type I)
- EBI: Pathogenic (in OI1)
- UniProt: Pathogenic (in OI1)
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro… (PMID 2794057)
- Cited in: Caffey Disease. (PMID 22855962)