D1219G (p.Asp1219Gly) variant of COL1A1 (Collagen alpha-1(I) chain)
D1219G (p.Asp1219Gly) 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 Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
D1219G (p.Asp1219Gly) variant details
- p.Asp1219Gly
- rs2144537008
- ClinGen CA400197440
- ClinVar RCV001554917
- ClinVar RCV002032604
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfe
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.80
- MetaSVM 0.69
- SIFT 0.00
- MutPred 0.47
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta with normal sclerae, dominant form; Oste)
- EBI: Pathogenic (in OI1)
- UniProt: Pathogenic (in OI1)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)