G805D (p.Gly805Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G805D (p.Gly805Asp) 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, perinatal lethal. 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.
G805D (p.Gly805Asp) variant details
- p.Gly805Asp
- rs121912904
- ClinGen CA257762
- ClinVar RCV000018786
- Ensembl rs121912904
- Pathogenic
- Osteogenesis imperfecta, perinatal lethal
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.99
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Osteogenesis imperfecta, perinatal lethal)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)