G197D (p.Gly197Asp) variant of COL1A1 (Collagen alpha-1(I) chain)
G197D (p.Gly197Asp) 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 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1; Osteogenesis impe. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
G197D (p.Gly197Asp) variant details
- p.Gly197Asp
- rs72667028
- UniProt VAR 089969
- Ensembl rs72667028
- Pathogenic
- Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1; Osteogenesis impe
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1; O)
- EBI: Pathogenic (in OI1)
- UniProt: Pathogenic (in OI1)
- Structural context available
- Cited in: Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. (PMID 27519266)
- Cited in: Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901… (PMID 1634225)