G259D (p.Gly259Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G259D (p.Gly259Asp) 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 type I; not provided. 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.
G259D (p.Gly259Asp) variant details
- p.Gly259Asp
- rs1584318648
- ClinGen CA368220499
- ClinVar RCV001330974
- ClinVar RCV004797934
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.99
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta type I; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)