G592S (p.Gly592Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G592S (p.Gly592Ser) 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 type I; Ehlers-Danlos syndrome, classic type, 1; Osteoge. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G592S (p.Gly592Ser) variant details
- p.Gly592Ser
- rs72658141
- ClinGen CA162929043
- ClinVar RCV001596844
- ClinVar RCV001866248
- Pathogenic
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; Osteoge
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.95
- CADD 29.60
- PolyPhen-2 0.58
- SIFT 0.00
- ClinVar: Pathogenic (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- EBI: Pathogenic (in OI2)
- UniProt: Pathogenic (in OI2)
- Population evidence available
- Structural context available
- Cited in: Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser… (PMID 7959683)
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)