G296V (p.Gly296Val) variant of COL1A1 (Collagen alpha-1(I) chain)
G296V (p.Gly296Val) 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.
G296V (p.Gly296Val) variant details
- p.Gly296Val
- rs1567761800
- ClinGen CA400222082
- ClinVar RCV002248997
- Ensembl rs1567761800
- Likely pathogenic
- Infantile cortical hyperostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.993
- ESM-1b 1.00
- AlphaMissense 0.98
- MutPred 1.00
- ClinVar: Likely pathogenic (Infantile cortical hyperostosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Caffey Disease. (PMID 22855962)