G109D (p.Gly109Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G109D (p.Gly109Asp) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2; Car. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
G109D (p.Gly109Asp) variant details
- p.Gly109Asp
- rs1114167416
- ClinGen CA368219522
- ClinVar RCV000490674
- ClinVar RCV001270303
- Pathogenic/Likely pathogenic
- not provided; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2; Car
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Combined osteogenesis imperfecta and Ehlers-Danlos)
- EBI: Pathogenic (in OIEDS2)
- UniProt: Pathogenic (in OIEDS2)
- Structural context available
- Cited in: Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis… (PMID 23692737)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)