G184D (p.Gly184Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G184D (p.Gly184Asp) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Osteogenesis imperfecta; Osteogenesis imperfecta with normal sclerae, dominant f. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G184D (p.Gly184Asp) variant details
- p.Gly184Asp
- rs1791793398
- ClinGen CA368220026
- ClinVar RCV001198993
- ClinVar RCV005213505
- Likely pathogenic
- Osteogenesis imperfecta; Osteogenesis imperfecta with normal sclerae, dominant f
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- MutPred 0.96
- ClinVar: Likely pathogenic (Osteogenesis imperfecta; Osteogenesis imperfecta with normal scl)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)