G700C (p.Gly700Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
G700C (p.Gly700Cys) 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; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
G700C (p.Gly700Cys) variant details
- p.Gly700Cys
- rs72658160
- ClinGen CA162935392
- ClinVar RCV002234258
- ClinVar RCV003223677
- Pathogenic
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- REVEL 0.98
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.00
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Amish population (allele frequency 0.0022)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)