G616E (p.Gly616Glu) variant of COL1A2 (Collagen alpha-2(I) chain)
G616E (p.Gly616Glu) 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 III; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G616E (p.Gly616Glu) variant details
- p.Gly616Glu
- rs1554397133
- ClinGen CA368222717
- ClinVar RCV001596905
- ClinVar RCV003883697
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta type III; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- REVEL 0.98
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta type III; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)