W1325C (p.Trp1325Cys) variant of COL1A1 (Collagen alpha-1(I) chain)
W1325C (p.Trp1325Cys) 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 type I; Osteogenesis imperfecta with normal sclerae, dom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
W1325C (p.Trp1325Cys) variant details
- p.Trp1325Cys
- rs2144534276
- ClinGen CA400193156
- ClinVar RCV001373665
- ClinVar RCV005438984
- Likely pathogenic
- Osteogenesis imperfecta type I; Osteogenesis imperfecta with normal sclerae, dom
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.68
- MetaSVM 0.57
- SIFT 0.00
- MutPred 0.92
- ClinVar: Likely pathogenic (Osteogenesis imperfecta type I; Osteogenesis imperfecta with nor)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)