G1046C (p.Gly1046Cys) variant of COL1A1 (Collagen alpha-1(I) chain)
G1046C (p.Gly1046Cys) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
G1046C (p.Gly1046Cys) variant details
- p.Gly1046Cys
- Ensembl rs68181904
- Pathogenic
- Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfe
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Pathogenic (Osteogenesis imperfecta with normal sclerae, dominant form; Oste)
- UniProt: Pathogenic
- Structural context available