G622C (p.Gly622Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
G622C (p.Gly622Cys) 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; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G622C (p.Gly622Cys) variant details
- p.Gly622Cys
- rs2115921275
- ClinGen CA368222768
- ClinVar RCV002277777
- ClinVar RCV003774894
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.97
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta; Osteogenesis imperfecta type I; Ehlers-)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)