G769C (p.Gly769Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
G769C (p.Gly769Cys) 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 Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type I; Ehler. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G769C (p.Gly769Cys) variant details
- p.Gly769Cys
- rs1792147522
- ClinGen CA368223673
- ClinVar RCV002239310
- ClinVar RCV002249643
- Pathogenic
- Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type I; Ehler
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfec)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)