G625C (p.Gly625Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
G625C (p.Gly625Cys) 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 Osteogenesis imperfecta, perinatal lethal; See cases; Ehlers-Danlos syndrome, cl. 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.
G625C (p.Gly625Cys) variant details
- p.Gly625Cys
- rs193922162
- ClinGen CA368222785
- ClinVar RCV002033708
- ClinVar RCV004584457
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta, perinatal lethal; See cases; Ehlers-Danlos syndrome, cl
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta, perinatal lethal; See cases; Ehlers-Dan)
- EBI: Pathogenic (in OI2)
- UniProt: Pathogenic (in OI2)
- Population evidence available
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)