G188C (p.Gly188Cys) variant of COL1A1 (Collagen alpha-1(I) chain)
G188C (p.Gly188Cys) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
G188C (p.Gly188Cys) variant details
- p.Gly188Cys
- rs2509248182
- ClinGen CA400225662
- ClinVar RCV002776568
- Likely pathogenic
- Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Likely pathogenic (Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1)
- EBI: Likely pathogenic (in OIEDS1)
- UniProt: Likely pathogenic (in OIEDS1)
- Structural context available