G1133E (p.Gly1133Glu) variant of COL1A1 (Collagen alpha-1(I) chain)
G1133E (p.Gly1133Glu) 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 Infantile cortical hyperostosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G1133E (p.Gly1133Glu) variant details
- p.Gly1133Glu
- rs1906659084
- ClinGen CA400199267
- NCI-TCGA Cosmic COSV9986
- ClinVar RCV001330771
- Likely pathogenic
- Infantile cortical hyperostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- SIFT 0.00
- MutPred 0.94
- ClinVar: Likely pathogenic (Infantile cortical hyperostosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Caffey Disease. (PMID 22855962)