G182C (p.Gly182Cys) variant of COL1A1 (Collagen alpha-1(I) chain)
G182C (p.Gly182Cys) 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 Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
G182C (p.Gly182Cys) variant details
- p.Gly182Cys
- rs1439626978
- ClinGen CA400225772
- ClinVar RCV003632017
- TOPMed rs1439626978
- Likely pathogenic
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 33.00
- ClinVar: Likely pathogenic (Osteogenesis imperfecta type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)