T1298N (p.Thr1298Asn) variant of COL1A1 (Collagen alpha-1(I) chain)
T1298N (p.Thr1298Asn) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Infantile cortical hyperostosis; Osteogenesis imperfecta, perinatal lethal; Oste. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
T1298N (p.Thr1298Asn) variant details
- p.Thr1298Asn
- rs1555571755
- ClinGen CA400193618
- ClinVar RCV000533081
- ClinVar RCV005018906
- Pathogenic/Likely pathogenic
- Infantile cortical hyperostosis; Osteogenesis imperfecta, perinatal lethal; Oste
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.68
- MetaSVM 0.37
- SIFT 0.00
- MutPred 0.80
- ClinVar: Pathogenic/Likely pathogenic (Infantile cortical hyperostosis; Osteogenesis imperfecta, perina)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Caffey Disease. (PMID 22855962)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)