G448E (p.Gly448Glu) variant of COL1A2 (Collagen alpha-2(I) chain)
G448E (p.Gly448Glu) 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, 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.
G448E (p.Gly448Glu) variant details
- p.Gly448Glu
- rs72658116
- ClinGen CA162922167
- ClinVar RCV002244124
- Ensembl rs72658116
- Likely pathogenic
- Osteogenesis imperfecta, perinatal lethal
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.99
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Osteogenesis imperfecta, perinatal lethal)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)