G766D (p.Gly766Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G766D (p.Gly766Asp) 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 Osteogenesis imperfecta; Osteogenesis imperfecta type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G766D (p.Gly766Asp) variant details
- p.Gly766Asp
- rs72658183
- ClinGen CA368223655
- ClinVar RCV003327332
- ClinVar RCV005627129
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta; Osteogenesis imperfecta type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta; Osteogenesis imperfecta type III)
- EBI: Pathogenic (in OI4)
- UniProt: Pathogenic (in OI4)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)