G425S (p.Gly425Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G425S (p.Gly425Ser) 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 with normal sclerae, dominant form; Osteog. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G425S (p.Gly425Ser) variant details
- p.Gly425Ser
- rs72648330
- ClinGen CA291546608
- ClinVar RCV000801597
- ClinVar RCV001575653
- Pathogenic
- not provided; Osteogenesis imperfecta with normal sclerae, dominant form; Osteog
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- ESM-1b 1.00
- AlphaMissense 0.77
- ClinVar: Pathogenic (not provided; Osteogenesis imperfecta with normal sclerae, domin)
- 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: An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen… (PMID 7691343)