G197V (p.Gly197Val) variant of COL1A1 (Collagen alpha-1(I) chain)
G197V (p.Gly197Val) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G197V (p.Gly197Val) variant details
- p.Gly197Val
- rs72667028
- ClinGen CA400225371
- ClinVar RCV001823557
- ClinVar RCV002264392
- Pathogenic/Likely pathogenic
- not provided; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.991
- ESM-1b 1.00
- AlphaMissense 0.97
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Osteogenesis imperfecta type I)
- EBI: Pathogenic (in OI4)
- UniProt: Pathogenic (in OI4)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)