G613R (p.Gly613Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
G613R (p.Gly613Arg) 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 Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; Ehlers. 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.
G613R (p.Gly613Arg) variant details
- p.Gly613Arg
- rs1792044352
- ClinGen CA368222699
- ClinVar RCV002241549
- ClinVar RCV003399010
- Likely pathogenic
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; Ehlers
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)