G22R (p.Gly22Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
G22R (p.Gly22Arg) 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 0.75 / 1. The record also includes published literature and structural context.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- rs72667007
- ClinGen CA291552447
- ClinVar RCV001291257
- ClinVar RCV002543013
- Pathogenic
- not provided; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- ESM-1b 1.00
- AlphaMissense 0.34
- MutPred 0.53
- ClinVar: Pathogenic (not provided; Osteogenesis imperfecta type I)
- EBI: Pathogenic (in OI2)
- UniProt: Pathogenic (in OI2)
- Structural context available
- Cited in: Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. (PMID 16786509)
- Cited in: Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief… (PMID 10627137)