G454C (p.Gly454Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
G454C (p.Gly454Cys) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Osteogenesis imperfecta, perinatal lethal; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G454C (p.Gly454Cys) variant details
- p.Gly454Cys
- rs72658117
- ClinGen CA4347024
- ClinVar RCV000255999
- ClinVar RCV004786641
- Pathogenic
- Osteogenesis imperfecta, perinatal lethal; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Osteogenesis imperfecta, perinatal lethal; not provided)
- EBI: Pathogenic (in OI2)
- UniProt: Pathogenic (in OI2)
- Structural context available
- Cited in: Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype… (PMID 18996919)
- Cited in: Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for… (PMID 21239989)