G1001S (p.Gly1001Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G1001S (p.Gly1001Ser) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Osteogenesis imperfecta with normal sclerae, dominant form. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G1001S (p.Gly1001Ser) variant details
- p.Gly1001Ser
- rs72653167
- ClinGen CA400203901
- ClinVar RCV003384288
- Likely pathogenic
- Osteogenesis imperfecta with normal sclerae, dominant form
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.06
- SIFT 0.00
- MutPred 1.00
- ClinVar: Likely pathogenic (Osteogenesis imperfecta with normal sclerae, dominant form)
- EBI: Likely pathogenic (in OI2)
- UniProt: Likely pathogenic (in OI2)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)