G1448R (p.Gly1448Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
G1448R (p.Gly1448Arg) 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 not provided; Osteogenesis imperfecta with normal sclerae, dominant form. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G1448R (p.Gly1448Arg) variant details
- p.Gly1448Arg
- rs2509152842
- ClinGen CA400190214
- ClinVar RCV003985011
- ClinVar RCV005637099
- Likely pathogenic
- not provided; Osteogenesis imperfecta with normal sclerae, dominant form
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- ESM-1b 1.00
- AlphaMissense 0.96
- ClinVar: Likely pathogenic (not provided; Osteogenesis imperfecta with normal sclerae, domin)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)