C61W (p.Cys61Trp) variant of COL1A1 (Collagen alpha-1(I) chain)
C61W (p.Cys61Trp) 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 Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C61W (p.Cys61Trp) variant details
- p.Cys61Trp
- rs755126464
- ClinGen CA400228457
- ClinVar RCV001901289
- ExAC rs755126464
- Pathogenic
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- ESM-1b 1.00
- AlphaMissense 1.00
- MutPred 0.83
- ClinVar: Pathogenic (Osteogenesis imperfecta type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)