G211D (p.Gly211Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G211D (p.Gly211Asp) 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; COL1A2-related disorder; 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.
G211D (p.Gly211Asp) variant details
- p.Gly211Asp
- rs72656378
- ClinGen CA162917449
- ClinVar RCV001959021
- ClinVar RCV003418259
- Pathogenic
- Osteogenesis imperfecta type I; COL1A2-related disorder; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.99
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Osteogenesis imperfecta type I; COL1A2-related disorder; Ehlers-)
- EBI: Pathogenic (in OI1)
- UniProt: Pathogenic (in OI1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen… (PMID 8829649)
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)