G593C (p.Gly593Cys) variant of COL1A1 (Collagen alpha-1(I) chain)
G593C (p.Gly593Cys) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 1.00 / 1. The record also includes published literature and structural context.
G593C (p.Gly593Cys) variant details
- p.Gly593Cys
- rs66527965
- ClinGen CA127133
- ClinVar RCV000018856
- ClinVar RCV004795928
- Likely pathogenic
- Osteogenesis imperfecta with normal sclerae, dominant form; Osteoporosis; Ehlers
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Likely pathogenic (Osteogenesis imperfecta with normal sclerae, dominant form; Oste)
- EBI: Pathogenic (in OI3 and OI4)
- UniProt: Pathogenic (in OI3 and OI4)
- Structural context available
- Cited in: Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type… (PMID 1770532)
- Cited in: Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro… (PMID 2794057)