G613E (p.Gly613Glu) variant of COL1A2 (Collagen alpha-2(I) chain)
G613E (p.Gly613Glu) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Osteogenesis imperfecta; Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G613E (p.Gly613Glu) variant details
- p.Gly613Glu
- rs2115917195
- ClinGen CA368222700
- ClinVar RCV002277776
- ClinVar RCV003096230
- Likely pathogenic
- not provided; Osteogenesis imperfecta; Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- REVEL 0.99
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Osteogenesis imperfecta; Ehlers-Danlos syndrome, c)
- EBI: Likely pathogenic
- UniProt: Likely 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)