G766R (p.Gly766Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
G766R (p.Gly766Arg) 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; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G766R (p.Gly766Arg) variant details
- p.Gly766Arg
- rs72658182
- ClinGen CA368223653
- ClinVar RCV002241231
- ClinVar RCV005633948
- Pathogenic/Likely pathogenic
- not provided; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic/Likely pathogenic (not provided; Osteogenesis imperfecta type I; Ehlers-Danlos synd)
- EBI: Pathogenic (in OI4)
- UniProt: Pathogenic (in OI4)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)