G1040S (p.Gly1040Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G1040S (p.Gly1040Ser) 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 III; Osteogenesis imperfecta, perinat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G1040S (p.Gly1040Ser) variant details
- p.Gly1040Ser
- rs72653178
- ClinGen CA257899
- ClinVar RCV000018871
- ClinVar RCV000518360
- Pathogenic
- not provided; Osteogenesis imperfecta type III; Osteogenesis imperfecta, perinat
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.99
- MetaSVM 1.01
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic (not provided; Osteogenesis imperfecta type III; Osteogenesis imp)
- EBI: Pathogenic (in OI2 and OI3)
- UniProt: Pathogenic (in OI2 and OI3)
- Structural context available
- Cited in: Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I… (PMID 18670065)
- Cited in: Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862-->Ser substitution in a type I collagen… (PMID 7789952)