G332R (p.Gly332Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
G332R (p.Gly332Arg) 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; Osteogenesis imperfecta with normal sclerae, dominant f. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
G332R (p.Gly332Arg) variant details
- p.Gly332Arg
- rs72645357
- ClinGen CA257866
- ClinVar RCV000018853
- ClinVar RCV000029586
- Pathogenic
- COL1A1-related disorder; Osteogenesis imperfecta with normal sclerae, dominant f
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (COL1A1-related disorder; Osteogenesis imperfecta with normal scl)
- EBI: Pathogenic (in OI3)
- UniProt: Pathogenic (in OI3)
- Structural context available
- Cited in: Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. (PMID 2037280)
- Cited in: Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of… (PMID 8669434)