G398R (p.Gly398Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
G398R (p.Gly398Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
G398R (p.Gly398Arg) variant details
- p.Gly398Arg
- rs72648319
- ClinGen CA400219077
- ClinVar RCV002249374
- Ensembl rs72648319
- Pathogenic
- Infantile cortical hyperostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (Infantile cortical hyperostosis)
- EBI: Pathogenic (in OI2)
- UniProt: Pathogenic (in OI2)
- Structural context available
- Cited in: Caffey Disease. (PMID 22855962)