G197C (p.Gly197Cys) variant of COL1A1 (Collagen alpha-1(I) chain)
G197C (p.Gly197Cys) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
G197C (p.Gly197Cys) variant details
- p.Gly197Cys
- rs8179178
- ClinGen CA291548135
- ClinVar RCV000490693
- ClinVar RCV001269743
- Pathogenic
- not provided; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- MutPred 1.00
- ClinVar: Pathogenic (not provided; Osteogenesis imperfecta type I)
- EBI: Pathogenic (in dbSNP:rs8179178)
- UniProt: Pathogenic (in dbSNP:rs8179178)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)