G766S (p.Gly766Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G766S (p.Gly766Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G766S (p.Gly766Ser) variant details
- p.Gly766Ser
- rs72658182
- ClinGen CA162936464
- ClinVar RCV000517302
- ClinVar RCV003766918
- Pathogenic
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.93
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.09
- CADD 29.40
- PolyPhen-2 0.98
- ClinVar: Pathogenic (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- EBI: Pathogenic (in OI4)
- UniProt: Pathogenic (in OI4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)